P54803
PR
Gene name |
GALC |
Protein name |
Galactocerebrosidase |
Names |
GALCERase, Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2581 |
EC number |
3.2.1.46: Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P54803
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P54803-F1 | Predicted | AlphaFoldDB |
735 variants for P54803
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs758685128 RCV001118813 RCV000669874 |
1 | M>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780972896 RCV000669876 |
1 | M>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669875 rs780972896 |
1 | M>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671876 rs1555384382 |
1 | M>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665941 rs1555384381 |
3 | E>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673659 rs1555384380 |
3 | E>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7297532 RCV000667335 rs376511103 |
8 | A>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000373901 rs767913083 CA7297530 |
10 | W>R | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001053831 CA390772041 rs1173602413 |
13 | R>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000338048 RCV000658703 RCV001251992 CA7297524 rs373587692 |
14 | A>G | Intellectual disability Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390772035 rs1180517690 RCV001118812 |
14 | A>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000667822 rs1555384360 |
17 | M>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002066986 RCV000675272 RCV001779052 rs376662045 CA7297521 |
17 | M>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7297519 rs755139799 RCV000377500 RCV000675271 |
18 | T>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_064430 RCV000322914 CA145819 RCV000675270 RCV000078205 rs111887056 |
21 | A>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595246385 RCV000989252 |
22 | G>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278962 CA390771976 rs372285275 |
22 | G>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7297514 rs372285275 RCV001278963 |
22 | G>D | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001117186 rs768031195 CA7297516 |
22 | G>R | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776663863 CA7297508 RCV001117185 |
28 | A>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770807058 RCV000814874 CA390771871 |
32 | L>M | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000674795 RCV002532166 rs572947747 CA390771798 |
40 | G>D | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA259871 rs387906955 VAR_064431 RCV000023595 |
41 | G>S | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1555384342 RCV000674533 |
42 | A>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410107 rs1057516816 CA16041707 CA390771780 RCV000673403 |
43 | Y>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7297498 rs751975987 RCV001115752 |
46 | D>H | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7297497 RCV000781395 rs751975987 |
46 | D>Y | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000672310 rs1555384335 |
47 | D>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481487 RCV000984178 rs1064793131 |
52 | G>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7297494 rs752371343 RCV000673949 |
53 | R>W | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs537461366 RCV002568723 RCV001760299 RCV001251991 CA265469443 |
55 | F>L | Intellectual disability Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000173074 RCV000498062 rs11623 CA274898 |
57 | G>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_013956 | 59 | G>R | KRB; infantile; significant reduction of activity [UniProt] | Yes | UniProt |
|
rs759110815 RCV000666126 CA7297492 |
60 | A>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001030029 rs1595245961 |
63 | G>ER | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390771651 RCV000502588 rs1555384318 |
65 | G>E | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518843 RCV001198292 RCV000415102 CA16043485 |
66 | A>T | Leukodystrophy Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000668173 CA390753441 VAR_013957 rs1555383892 |
68 | S>F | Galactosylceramide beta-galactosidase deficiency KRB; infantile; significant reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA275055 RCV000175531 RCV000723390 rs771111145 |
69 | R>* | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003133488 RCV002271549 COSM3420069 CA7297460 RCV000664786 rs371523347 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001219037 rs1887064841 |
71 | L>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390753405 rs959445153 RCV000669432 |
74 | Y>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778447883 RCV000437856 CA7297459 RCV000765182 |
76 | E>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs367958957 CA7297458 RCV001278960 |
78 | Y>C | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003132077 RCV002538105 RCV000811717 CA7297457 rs73312829 COSM699202 RCV002282375 |
79 | R>C | lung Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_013958 CA7297456 rs370117160 |
79 | R>H | Variant assessed as Somatic; 0.0 impact. KRB [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000405383 rs886043419 RCV000790755 |
82 | I>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_013959 | 82 | I>M | KRB; adult; reduction of activity; when associated with V-2105 [UniProt] | Yes | UniProt |
|
rs1555383882 RCV000666065 RCV003133490 CA390753345 |
84 | D>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002307527 RCV002252151 RCV000522459 RCV000673406 CA7297441 rs201422931 |
89 | P>L | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003120521 RCV001270007 rs757799254 |
98 | L>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390753194 RCV001115751 rs1361755363 |
105 | D>N | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7297413 rs746487628 VAR_003380 |
111 | G>D | KRB [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA277469 rs756690487 RCV001269999 VAR_003381 RCV000195270 |
111 | G>S | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA220408 rs147313927 RCV000790805 RCV000256023 VAR_003382 RCV000178047 |
112 | T>A | Galactosylceramide beta-galactosidase deficiency KRB; adult [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390752765 rs145580093 VAR_003383 |
117 | M>L | KRB; adult [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000545705 RCV000078201 rs145580093 CA220410 |
117 | M>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000493135 RCV000590611 rs200532368 CA7297405 |
127 | R>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775886832 RCV001251989 |
127 | R>L | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367604629 RCV000811095 CA264711521 |
128 | G>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA390752571 rs1240965365 RCV000672034 |
129 | Y>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs374635469 RCV000169155 VAR_064432 CA273994 RCV002298498 |
130 | E>K | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001873460 CA7297399 rs746507078 RCV001093135 |
131 | W>R | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003132203 rs1886979623 RCV001065790 |
134 | M>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16041705 rs1057516673 RCV000411282 |
139 | K>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000671072 rs1555383687 |
139 | K>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059225 RCV000255375 rs775277935 |
144 | I>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555383679 RCV000668697 RCV001785696 |
145 | T>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001120669 CA7297392 rs781281519 |
145 | T>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7297355 rs745620101 RCV003141780 RCV000795746 |
151 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057517185 RCV000411607 |
157 | L>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767286511 RCV003133503 CA7297345 RCV000674413 |
162 | D>E | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA274053 RCV001785486 RCV000169212 rs761550284 |
163 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768993170 RCV002469215 RCV000594045 RCV002497254 CA7297344 |
167 | N>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667306 rs1555383517 |
174 | Y>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs115869593 RCV000872010 CA7297340 |
177 | T>N | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000410261 rs968905231 CA16041702 |
178 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001647048 RCV000078203 RCV000355494 VAR_013960 rs1805078 CA145817 |
184 | R>C | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000667173 rs1555383500 |
186 | H>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796371 RCV003144601 CA264711077 VAR_003384 rs997021099 |
187 | D>V | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA390751369 RCV000625867 rs1555383498 |
193 | I>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA264711073 rs963756824 VAR_003385 RCV001248182 |
194 | G>A | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA390750891 RCV000666816 rs1555383309 |
195 | I>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555383308 RCV000668080 |
198 | E>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830595 CA264710625 RCV000727591 rs909979938 |
198 | E>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1886780825 RCV001278167 |
199 | R>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000169386 rs786204618 CA274237 |
200 | S>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000514309 CA7297285 RCV000408648 rs202131052 |
210 | R>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000727578 RCV000169413 rs766310671 CA274279 |
220 | R>* | Galactosylceramide beta-galactosidase deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000193133 COSM958394 RCV002261004 rs199967869 RCV000395974 CA206409 |
220 | R>Q | Galactosylceramide beta-galactosidase deficiency endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237593 CA7297279 rs373077659 |
225 | A>E | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001644930 rs1436074042 CA390749592 RCV001195147 RCV001508371 |
225 | A>T | Spastic ataxia Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001205721 rs1886496591 |
226 | S>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1886495923 RCV003130237 RCV001278165 |
227 | D>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669147 CA7297277 rs542231350 |
231 | E>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs34362748 RCV000675262 VAR_003386 RCV000078206 CA145821 RCV000340530 |
248 | D>N | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_003387 CA10588577 rs886039569 RCV000256130 RCV000984177 |
250 | I>T | Galactosylceramide beta-galactosidase deficiency KRB; late infantile [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001829822 rs1292976689 RCV000658303 CA390748129 |
263 | A>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_003388 RCV000697346 rs1308816724 CA390748135 |
263 | A>T | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1555381958 RCV000665041 |
275 | D>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250794 rs1886145312 |
277 | S>N | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666537 CA390747950 rs886042645 |
278 | T>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_013961 | 278 | T>I | KRB; infantile; significant reduction of activity [UniProt] | Yes | UniProt |
|
RCV001329064 rs1463589873 CA390747923 |
280 | N>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001785610 RCV000415223 VAR_003389 rs377274761 RCV000588587 CA7297231 |
284 | G>S | Leukodystrophy Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA259867 rs199847983 RCV000363446 RCV000023593 VAR_003390 |
286 | G>D | Galactosylceramide beta-galactosidase deficiency KRB; significant reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs769433488 RCV001061371 |
287 | C>Y | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372621124 RCV001209816 CA264703972 |
288 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA7297226 rs780750448 RCV000991305 RCV002550623 RCV001784520 |
290 | R>C | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM958392 RCV001030028 rs746806459 CA264703931 |
290 | R>H | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000989251 CA264703903 rs746922378 |
295 | N>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_003391 CA7297224 rs746922378 RCV000666177 |
295 | N>T | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_003392 RCV000522818 CA7297219 rs756352952 RCV000285229 |
303 | S>F | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency KRB; infantile [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000180466 rs74887188 RCV000395980 VAR_013962 CA203699 RCV001762403 |
305 | I>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000666688 COSM1371405 CA390747655 rs1349064845 |
306 | A>T | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000664582 CA7297196 rs758904079 |
309 | L>F | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595215209 CA390747597 VAR_013963 |
314 | Y>C | KRB [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA16041701 rs776368825 RCV000411117 |
316 | Q>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766071179 CA7297191 RCV002543246 RCV001308718 |
317 | L>M | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_003393 RCV001782868 CA16041700 RCV000412229 rs1057516642 |
318 | P>A | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_064433 rs387906954 CA259869 RCV000023594 |
318 | P>R | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000169089 RCV000255073 rs786204454 |
319 | Y>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000590447 RCV000507823 rs183105855 CA7297190 RCV000255537 |
319 | Y>C | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390747543 VAR_064434 COSM553793 rs1472207768 |
323 | G>R | lung KRB [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1057516808 RCV000410081 |
324 | L>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001778877 CA10603752 RCV000345122 RCV002519072 rs772190761 |
325 | M>V | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001269502 rs1337518083 RCV001390629 CA390747510 |
328 | Q>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000288663 CA7297185 rs190921137 RCV002261049 |
333 | G>R | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000806470 RCV002279541 rs757407613 CA7297183 VAR_013964 |
335 | Y>C | Galactosylceramide beta-galactosidase deficiency KRB; infantile; significant reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001706483 RCV000383198 CA7297182 rs185073540 |
336 | V>M | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057516469 RCV000410105 |
338 | E>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517382 RCV000409313 |
341 | V>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200516260 CA390747369 RCV001197511 |
348 | T>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7297164 rs200516260 RCV001278163 |
348 | T>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16041696 rs1057516270 RCV000411899 |
355 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527578 rs1555381439 RCV000521361 |
359 | K>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767236077 RCV001269591 RCV001382298 |
362 | G>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759286485 RCV001117091 RCV002261280 CA7297146 |
372 | A>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001278162 rs759286485 CA7297147 |
372 | A>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1376496659 VAR_064435 CA390747138 |
384 | I>T | KRB [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs121908010 RCV000004022 CA252877 |
385 | E>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390747072 rs1200769534 RCV000671847 |
392 | S>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7297102 rs569569879 RCV001248417 |
395 | I>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001253404 rs1885268471 |
396 | R>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064436 | 396 | R>L | KRB [UniProt] | Yes | UniProt |
|
RCV000671990 rs887930208 CA264688612 |
396 | R>Q | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_003394 CA7297101 RCV000539298 RCV001266086 rs770485731 RCV001547432 |
396 | R>W | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases KRB; bilateral cherry red spots [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA390747019 VAR_003395 rs771232832 |
400 | P>L | KRB [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001260244 rs1885266822 |
405 | S>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785935 CA390746851 rs1566976644 |
423 | L>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410806 CA16041694 rs1057517372 |
424 | Q>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411089 RCV000667088 rs1057516394 |
425 | V>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_013965 | 426 | W>G | KRB; infantile; significant reduction of activity [UniProt] | Yes | UniProt |
|
rs201591903 RCV001332226 CA7297066 |
427 | Y>C | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1885229622 RCV001231281 |
446 | W>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs557778528 RCV001278160 |
451 | D>Y | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057520151 RCV001833513 CA16603289 RCV000437734 |
452 | G>D | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs755193670 CA7297025 RCV000353661 |
459 | H>R | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1313792705 CA390746565 RCV001278159 |
464 | F>L | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390746560 RCV000680275 rs1566974586 |
465 | T>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000538364 RCV000078192 CA145802 rs34134328 RCV000428446 VAR_003396 |
468 | T>S | Galactosylceramide beta-galactosidase deficiency KRB; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000317512 CA7297017 rs374868151 |
473 | R>H | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000409116 rs1057517082 |
476 | S>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278158 CA390746479 rs1414778573 |
479 | L>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001248052 rs759122249 CA7297014 |
481 | P>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7297012 rs771051919 RCV000821560 |
485 | P>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000668258 VAR_064437 rs202135871 RCV000498864 CA264685589 |
490 | Y>N | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000169172 RCV001541362 rs771489305 |
491 | K>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390746279 RCV000666451 rs1555379155 |
507 | F>L | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10606606 VAR_003397 rs375867319 RCV000324608 RCV000726405 |
514 | F>S | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000174663 CA274999 RCV000723965 rs794727116 |
515 | E>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001278155 rs370952794 RCV000292754 CA10605535 RCV002519247 |
523 | P>T | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA7296979 rs146286491 RCV000262278 |
525 | E>K | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001093133 rs200960659 VAR_003398 RCV000410159 CA7296976 |
529 | T>M | Galactosylceramide beta-galactosidase deficiency Variant assessed as Somatic; 4.64e-05 impact. KRB; infantile [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749893889 RCV000169377 CA274231 RCV001269916 VAR_003399 |
531 | R>C | Variant assessed as Somatic; 0.0001856 impact. Galactosylceramide beta-galactosidase deficiency KRB [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000174662 CA234058 RCV000153296 COSM958390 rs200378205 VAR_013966 |
531 | R>H | Variant assessed as Somatic; 0.0 impact. Galactosylceramide beta-galactosidase deficiency endometrium KRB; infantile; significant reduction of activity [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200378205 RCV000761503 CA390746116 |
531 | R>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs367327 RCV000531711 |
540 | T>= | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001115668 rs557464603 CA7296972 |
540 | T>I | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000023588 CA259863 VAR_003400 rs387906952 RCV001270016 |
544 | D>N | Galactosylceramide beta-galactosidase deficiency KRB; Arab patients [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001326439 rs1289015582 RCV001760417 |
545 | A>E | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10645180 rs886050864 RCV000357084 |
548 | T>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003137698 VAR_013967 CA274392 RCV000169525 rs748573754 |
553 | G>R | Galactosylceramide beta-galactosidase deficiency KRB; loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA145805 rs398607 RCV001249259 VAR_003401 RCV000078194 RCV000399633 |
562 | I>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595190129 CA390745889 RCV000989250 |
564 | C>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_003402 | 566 | V>G | KRB [UniProt] | Yes | UniProt |
|
RCV000723436 CA274200 VAR_003403 RCV000169344 RCV001266084 rs752537626 |
567 | Y>S | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001278154 rs540808138 CA7296936 RCV001815532 RCV002265977 |
570 | T>N | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555378701 RCV000670363 |
571 | P>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200219480 CA7296934 RCV000271252 RCV000812178 |
573 | T>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001329063 CA7296933 rs774555128 RCV002546300 |
576 | V>A | Galactosylceramide beta-galactosidase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000673963 rs751283440 |
587 | I>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7296926 rs368818550 RCV001335146 |
587 | I>T | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_003404 rs1360345372 RCV000669048 CA390745708 |
592 | A>S | Galactosylceramide beta-galactosidase deficiency Variant assessed as Somatic; impact. KRB [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV001038602 rs1884845930 |
598 | W>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_003405 rs387906953 RCV000023589 CA259865 |
599 | I>S | Galactosylceramide beta-galactosidase deficiency KRB; infantile; Druze patients [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000781391 rs766007316 RCV001724154 CA7296919 |
605 | Y>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000410434 rs1057517033 CA16041692 |
613 | G>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057516433 RCV000409588 |
616 | I>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7296888 RCV000675253 RCV001084937 rs192911803 |
621 | R>H | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001212476 rs1884765073 |
629 | W>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1336726861 RCV000673851 |
629 | W>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566967736 CA390745450 RCV003130026 RCV000723348 |
629 | W>L | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411823 RCV000482303 rs1057516453 CA16041690 |
630 | Y>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1418694289 CA390745430 RCV000667307 |
632 | L>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555378538 RCV000487204 RCV001851266 |
633 | T>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749708827 RCV001563136 RCV000671860 |
633 | T>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670467 rs1555378534 |
633 | T>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7296881 RCV001064405 rs766762599 |
633 | T>M | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001785518 rs138577661 RCV000345880 VAR_013968 CA7296877 |
634 | L>S | Galactosylceramide beta-galactosidase deficiency KRB; adult [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001174873 CA240815 rs769851272 RCV001826881 RCV000175126 |
638 | G>S | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_003406 rs421262 RCV000290698 RCV000078197 RCV000586993 CA145810 |
641 | T>A | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_003407 rs780593419 RCV001269990 CA7296844 |
645 | L>R | KRB; adult [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001090091 rs1884501856 |
648 | K>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1249991480 RCV001420862 RCV000671889 RCV000995226 CA390745306 |
650 | L>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000666184 CA390745241 rs762034337 |
660 | K>* | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000675127 RCV000454130 rs1060499761 CA16609532 |
663 | W>G | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1884498480 RCV001062997 |
668 | T>P | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_013969 | 668 | T>R | KRB; infantile; significant reduction of activity [UniProt] | Yes | UniProt |
|
RCV003132161 rs754507781 RCV001044217 |
679 | F>missing | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781392 RCV001825534 rs779202612 CA7296829 |
679 | F>L | Galactosylceramide beta-galactosidase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000206966 VAR_069512 rs200607029 CA350966 RCV001824669 RCV001093132 |
681 | V>M | Galactosylceramide beta-galactosidase deficiency KRB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
rs756141815 RCV000349310 CA10645176 |
685 | R>S | Galactosylceramide beta-galactosidase deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs990036873 CA265469463 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs752895415 CA7297537 |
4 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs779006223 CA7297536 |
5 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753907232 CA7297534 |
6 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1276517268 CA390772106 |
8 | A>T | No |
ClinGen gnomAD |
|
|
rs1329012570 CA390772094 |
9 | S>A | No |
ClinGen gnomAD |
|
|
CA390772087 rs1448371018 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs1470495007 CA390772068 |
10 | W>C | No |
ClinGen gnomAD |
|
|
rs1427747146 CA390772045 |
12 | R>C | No |
ClinGen gnomAD |
|
|
CA265469461 rs938939224 |
12 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7297529 rs763795962 |
13 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297528 rs763795962 |
13 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297527 rs763795962 |
13 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297525 rs373587692 |
14 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204597335 CA390772025 |
15 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776345221 CA7297523 |
15 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1280550309 CA390772010 |
16 | A>D | No |
ClinGen gnomAD |
|
|
CA7297522 rs770684500 |
16 | A>P | No |
ClinGen ExAC |
|
|
CA7297520 rs779130461 |
17 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs376662045 CA390772007 |
17 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779130461 CA390772005 |
17 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390771984 rs1308036871 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs768031195 CA7297515 |
22 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001311606 CA265469458 |
23 | S>L | No |
ClinGen TOPMed |
|
|
CA390771958 rs1379802641 |
24 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA265469457 rs912505865 |
25 | G>A | No |
ClinGen Ensembl |
|
|
CA7297511 rs762599668 |
25 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185056562 CA390771932 |
26 | R>L | No |
ClinGen gnomAD |
|
|
rs1441656888 CA390771928 |
27 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390771927 rs1441656888 |
27 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7297510 rs764788873 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390771916 rs776663863 |
28 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284765288 CA390771909 |
28 | A>V | No |
ClinGen gnomAD |
|
|
CA390771907 rs1380807200 |
29 | V>M | No |
ClinGen gnomAD |
|
|
rs935806837 CA265469455 |
30 | P>L | No |
ClinGen Ensembl |
|
|
rs1282104717 CA390771886 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA265469454 rs998552856 |
31 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1323657145 CA390771876 |
31 | L>S | No |
ClinGen TOPMed |
|
|
rs1202415632 CA390771866 |
32 | L>R | No |
ClinGen gnomAD |
|
|
rs770807058 CA7297507 |
32 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297505 rs772928724 |
34 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768936728 CA7297504 |
35 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA390771846 rs1359964555 |
35 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390771837 rs768936728 |
35 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1013035024 CA265469451 |
39 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA265469450 rs541473119 |
39 | P>H | No |
ClinGen 1000Genomes |
|
|
rs1013035024 CA390771804 |
39 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7297501 rs572947747 |
40 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7297502 rs780050514 |
40 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287272360 CA390771793 |
41 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs387906955 CA390771795 |
41 | G>C | No |
ClinGen gnomAD |
|
|
rs1340488300 CA390771788 |
42 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745894260 CA7297500 |
42 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297499 rs781769154 |
44 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280554297 CA390771779 |
44 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390771772 rs1340378035 |
45 | L>F | No |
ClinGen gnomAD |
|
|
rs1393673413 CA390771762 |
47 | D>N | No |
ClinGen TOPMed |
|
|
rs1288430367 CA390771752 |
48 | S>A | No |
ClinGen TOPMed |
|
|
rs1426071064 CA390771742 COSM1207833 |
49 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7297495 rs758042794 |
49 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA390771741 rs1172471289 |
50 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191745338 CA390771714 CA390771713 |
54 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390771711 rs1489155212 |
55 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1034543848 CA265469444 |
55 | F>Y | No |
ClinGen gnomAD |
|
|
rs906992891 CA265469441 |
56 | D>N | No |
ClinGen gnomAD |
|
|
CA390771699 rs11623 |
57 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1217139658 CA390771698 |
57 | G>D | No |
ClinGen gnomAD |
|
|
CA265469440 rs11623 |
57 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1064795927 RCV000482009 |
58 | I>missing | No |
ClinVar dbSNP |
|
|
rs534375522 CA265469439 |
58 | I>F | No |
ClinGen 1000Genomes |
|
| TCGA novel | 58 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764757647 CA265469438 |
59 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764757647 CA7297493 |
59 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866791457 CA265469437 |
59 | G>V | No |
ClinGen Ensembl |
|
|
rs1047492549 CA265469436 |
61 | V>L | No |
ClinGen TOPMed |
|
|
CA390753447 rs1478697086 |
67 | T>I | No |
ClinGen TOPMed |
|
|
CA390753403 rs1398608264 |
75 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs78774548 CA264711998 |
75 | P>Q | No |
ClinGen Ensembl |
|
|
rs1398608264 CA390753402 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7297455 rs368689863 |
80 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA264711988 rs1021142174 |
81 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1258153050 | 89 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264711932 rs377554388 |
90 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1198700059 CA390753293 |
90 | N>Y | No |
ClinGen gnomAD |
|
|
rs1346514666 CA390753275 |
92 | G>D | No |
ClinGen gnomAD |
|
|
rs748593957 CA7297440 |
96 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241690638 CA390753253 |
96 | H>Y | No |
ClinGen gnomAD |
|
|
CA264711926 rs991303084 |
97 | I>T | No |
ClinGen gnomAD |
|
|
rs774831978 CA7297439 |
97 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390753234 rs1332769702 |
99 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7297437 rs768874101 COSM1290331 |
102 | I>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000730077 CA390753205 rs1567014169 |
103 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7297436 rs749615956 |
106 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1407463826 CA390753183 |
107 | Q>K | No |
ClinGen gnomAD |
|
|
rs1164097822 CA390753170 |
108 | T>I | No |
ClinGen gnomAD |
|
|
CA390753168 rs1472984936 |
109 | T>A | No |
ClinGen gnomAD |
|
|
CA390752848 rs11552556 |
110 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7297411 rs147313927 |
112 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353810301 CA390752826 |
112 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1037533065 CA264711532 |
119 | Y>H | No |
ClinGen TOPMed |
|
|
CA390752717 rs1355886693 |
120 | A>E | No |
ClinGen TOPMed |
|
|
CA7297406 rs751595447 |
122 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7297407 rs761824140 |
122 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs985329057 CA264711525 |
123 | E>D | No |
ClinGen Ensembl |
|
|
CA390752674 rs1299048069 |
123 | E>K | No |
ClinGen TOPMed |
|
|
rs1175809028 CA390752646 |
124 | N>T | No |
ClinGen gnomAD |
|
|
rs1480538892 CA390752633 |
125 | Y>C | No |
ClinGen gnomAD |
|
|
rs200532368 CA7297404 |
127 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775886832 COSM1207834 CA7297403 |
127 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7297401 rs759271015 |
129 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA7297400 rs374635469 |
130 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933253628 CA264711514 |
134 | M>L | No |
ClinGen TOPMed |
|
|
rs541897287 CA7297396 |
136 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA264711510 rs924257644 |
136 | E>G | No |
ClinGen TOPMed |
|
|
TCGA novel CA264711507 rs977080847 |
138 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA264711504 rs1057516673 |
139 | K>E | No |
ClinGen TOPMed |
|
|
rs1172402407 CA390752415 |
139 | K>T | No |
ClinGen gnomAD |
|
|
rs778895258 CA7297395 |
140 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000675264 CA7297393 rs753623482 |
143 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs764143160 CA7297389 |
147 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA264711496 rs368584291 |
147 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7297358 rs749233234 |
148 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749233234 CA264711113 |
148 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297356 rs372568602 |
150 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390751913 rs774472326 |
153 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297353 rs758557526 |
154 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1331224157 CA390751898 |
155 | G>E | No |
ClinGen gnomAD |
|
|
CA7297351 rs779037844 |
155 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7297349 rs370222749 |
157 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369809734 CA390751870 |
157 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264711103 rs568346072 |
159 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs568346072 CA390751847 |
159 | K>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7297348 rs376415427 |
160 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390751819 rs373159695 |
161 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534598133 CA7297346 |
162 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA264711099 rs868488829 |
162 | D>V | No |
ClinGen Ensembl |
|
|
CA390751785 rs1182199981 |
163 | W>* | No |
ClinGen TOPMed |
|
|
CA390751743 rs1421752982 |
166 | V>I | No |
ClinGen TOPMed |
|
|
rs992757511 CA264711095 |
167 | N>H | No |
ClinGen gnomAD |
|
|
rs768993170 CA264711093 |
167 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992757511 CA390751729 |
167 | N>Y | No |
ClinGen gnomAD |
|
|
CA390751697 rs1178963908 |
170 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs945644536 CA264711092 |
170 | L>V | No |
ClinGen TOPMed |
|
|
rs763635404 CA7297343 |
172 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388075066 CA390751644 |
173 | Y>C | No |
ClinGen Ensembl |
|
|
CA390751607 rs1209613107 |
175 | V>A | No |
ClinGen gnomAD |
|
|
rs552161894 CA7297341 |
176 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390751548 rs1226870108 |
180 | V>L | No |
ClinGen TOPMed |
|
|
rs1309564348 CA390751538 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA264711084 rs926735313 |
182 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7297335 rs768814203 |
184 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs949827112 CA264711080 |
186 | H>Y | No |
ClinGen TOPMed |
|
|
rs550875261 CA7297334 |
186 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390751456 rs997021099 |
187 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs531047429 CA7297333 |
190 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390751399 rs1160550641 |
191 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756626444 CA7297332 |
192 | Y>C | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 194 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390750859 rs1444881094 |
197 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs984059476 CA264710623 |
200 | S>P | No |
ClinGen Ensembl |
|
|
CA390750779 rs757920477 CA7297309 |
202 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567007683 CA390750775 |
203 | A>T | No |
ClinGen Ensembl |
|
|
rs372406289 CA7297308 |
204 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7297306 rs774098253 |
205 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs764704902 CA7297307 |
206 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747725011 CA7297286 |
208 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA264708372 rs1020663198 |
208 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7297284 rs376441238 |
213 | L>V | No |
ClinGen ESP ExAC |
|
|
CA7297283 rs369575157 |
216 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390749622 rs1299797580 |
222 | K>E | No |
ClinGen gnomAD |
|
|
CA390749613 rs1439853845 |
222 | K>N | No |
ClinGen gnomAD |
|
|
CA7297281 rs767189595 |
224 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7297282 rs750293918 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7297280 rs373077659 |
225 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1032231866 CA264708342 |
226 | S>G | No |
ClinGen Ensembl |
|
|
rs1595226315 CA390749547 |
228 | N>T | No |
ClinGen Ensembl |
|
|
CA390749537 rs1567000598 |
229 | L>P | No |
ClinGen Ensembl |
|
|
CA390749527 rs1410694817 |
230 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7297276 rs573698381 CA264708332 |
231 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776784404 CA7297274 |
234 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935151426 CA264708308 |
235 | A>V | No |
ClinGen TOPMed |
|
|
rs747457735 CA7297272 |
236 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979333006 CA264708294 |
238 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390749404 rs1282865033 |
239 | L>F | No |
ClinGen gnomAD |
|
|
rs1567000484 CA390749375 |
241 | A>G | No |
ClinGen Ensembl |
|
|
COSM958393 CA264708280 rs901252669 |
242 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs754560707 CA7297267 |
245 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1416058083 CA390749297 |
246 | V>E | No |
ClinGen gnomAD |
|
|
CA7297265 rs149743970 |
249 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA264708269 rs779529654 |
249 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297266 rs779529654 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264704100 rs866358110 |
252 | A>S | No |
ClinGen Ensembl |
|
|
CA7297243 rs781003161 |
253 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757149798 CA7297242 |
254 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1886148366 RCV001269896 |
255 | P>R | No |
ClinVar dbSNP |
|
|
rs751465042 CA7297241 |
258 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1289745535 CA390748195 |
258 | H>R | No |
ClinGen TOPMed |
|
|
CA390748199 rs751465042 |
258 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 260 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA264704078 rs1040331131 |
261 | K>E | No |
ClinGen gnomAD |
|
|
rs560248069 CA7297240 |
262 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 262 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449959007 CA390748122 |
264 | K>E | No |
ClinGen TOPMed |
|
|
rs371830888 CA264704074 |
264 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1269653018 CA390748096 |
266 | T>A | No |
ClinGen TOPMed |
|
|
rs867226993 CA264704071 |
266 | T>N | No |
ClinGen Ensembl |
|
|
rs755300485 CA7297239 |
267 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7297237 rs766573622 |
270 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs886042645 CA10604515 RCV000398980 |
278 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1566993302 CA390747937 |
279 | L>* | No |
ClinGen Ensembl |
|
|
CA390747927 rs1253723531 |
280 | N>D | No |
ClinGen TOPMed |
|
|
CA7297233 rs762291457 |
282 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397152875 CA390747862 |
284 | G>D | No |
ClinGen gnomAD |
|
|
rs1411600431 CA390747853 |
285 | A>V | No |
ClinGen TOPMed |
|
|
CA7297229 rs769433488 |
287 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297230 rs775030814 |
287 | C>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000180100 CA220413 rs398123177 |
288 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1030462748 CA264703939 |
289 | G>A | No |
ClinGen TOPMed |
|
|
CA7297227 rs745376018 |
289 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA390747796 rs780750448 |
290 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334820477 CA390747772 |
291 | I>N | No |
ClinGen gnomAD |
|
|
CA7297222 rs758289857 |
297 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7297223 rs777813137 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752480983 CA7297221 |
298 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566993126 CA390747710 |
299 | G>D | No |
ClinGen Ensembl |
|
|
CA390747703 rs1394975427 |
300 | Y>C | No |
ClinGen gnomAD |
|
|
rs780141800 CA7297220 |
301 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7297198 rs755706183 |
304 | T>V | No |
ClinGen ExAC |
|
| TCGA novel | 307 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268037547 CA390747640 |
308 | N>H | No |
ClinGen gnomAD |
|
|
CA390747620 rs1357918318 |
311 | A>T | No |
ClinGen gnomAD |
|
|
rs753063558 CA7297195 |
312 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297194 rs759152228 CA7297193 |
312 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566990777 CA390747608 |
313 | Y>H | No |
ClinGen Ensembl |
|
|
rs1886008578 RCV001093134 |
315 | E>missing | No |
ClinVar dbSNP |
|
|
CA7297192 rs776368825 |
316 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA264702237 rs1019954881 |
316 | Q>P | No |
ClinGen Ensembl |
|
|
CA390747571 rs387906954 |
318 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA264702209 rs868167460 |
320 | G>W | No |
ClinGen Ensembl |
|
| TCGA novel | 321 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419979029 CA390747552 |
321 | R>S | No |
ClinGen gnomAD |
|
|
CA390747555 rs1461835564 |
321 | R>T | No |
ClinGen gnomAD |
|
|
CA390747545 rs772842910 |
322 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390747538 rs1242332156 |
323 | G>E | No |
ClinGen gnomAD |
|
|
CA390747541 rs1472207768 |
323 | G>W | No |
ClinGen gnomAD |
|
|
CA390747537 rs1194954694 |
324 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7297188 rs772190761 |
325 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748094096 CA7297187 |
326 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12888666 CA390747505 |
328 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1227778798 CA390747493 |
330 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7297184 rs781410346 |
334 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1361075221 CA390747460 |
335 | Y>H | No |
ClinGen gnomAD |
|
|
CA7297180 rs758879198 |
340 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390747427 rs1404226903 |
340 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs891013671 CA264702149 |
341 | V>L | No |
ClinGen gnomAD |
|
|
rs1595215007 CA390747406 |
343 | V>G | No |
ClinGen Ensembl |
|
|
CA7297179 rs753217734 |
343 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390747401 RCV000518907 rs1555381559 |
344 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779248589 CA7297178 |
345 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7297165 rs771203702 |
347 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7297163 rs777871015 |
349 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7297162 rs772224854 |
350 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA390747333 rs1373938575 |
353 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM404043 rs779477628 CA7297160 |
353 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755434743 CA7297159 |
354 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs754310196 CA390747316 |
356 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7297158 rs754310196 |
356 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390747303 rs74073730 |
358 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390747286 rs1357100365 |
360 | T>I | No |
ClinGen gnomAD |
|
|
rs1298443144 CA390747289 |
360 | T>S | No |
ClinGen TOPMed |
|
|
rs1177210488 CA390747274 |
362 | G>V | No |
ClinGen Ensembl |
|
|
rs750127700 CA7297154 |
363 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1311377246 CA390747244 |
366 | K>N | No |
ClinGen TOPMed |
|
|
CA390747247 rs1395882870 |
366 | K>R | No |
ClinGen TOPMed |
|
|
rs1410766358 CA390747235 |
368 | G>* | No |
ClinGen gnomAD |
|
|
rs767023987 CA7297153 |
368 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540587431 CA7297152 |
369 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001269902 rs1885895082 |
369 | S>R | No |
ClinVar dbSNP |
|
|
CA7297149 rs372793797 |
370 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7297151 rs148638986 |
370 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148638986 CA7297150 |
370 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1015754738 CA264701196 |
371 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390747220 rs1482369082 |
371 | V>I | No |
ClinGen gnomAD |
|
|
rs368860236 CA7297144 |
374 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7297142 rs778843257 |
381 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199723885 CA7297140 |
383 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390747141 rs1192791166 |
384 | I>V | No |
ClinGen TOPMed |
|
|
CA264701148 rs906777379 |
386 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 387 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780665279 CA7297139 |
387 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368284541 CA264688620 |
389 | H>D | No |
ClinGen ESP TOPMed |
|
|
rs1448632076 CA390747093 |
389 | H>R | No |
ClinGen gnomAD |
|
|
CA390747078 rs1395397636 |
391 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1313058019 CA390747074 |
391 | H>Q | No |
ClinGen TOPMed |
|
|
rs1395397636 CA390747076 |
391 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764350127 CA7297104 |
392 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1266642476 CA390747067 |
393 | K>E | No |
ClinGen gnomAD |
|
|
rs763125933 CA7297103 |
395 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7297100 rs746358292 |
397 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7297098 rs771232832 |
400 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371724294 CA7297097 |
403 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777305549 CA390747000 |
403 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297096 rs777305549 |
403 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747714175 CA7297094 |
407 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297095 rs771706821 |
407 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA390746960 rs1404645132 |
409 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390746962 rs1404645132 |
409 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1156529393 CA390746933 |
413 | L>F | No |
ClinGen TOPMed |
|
|
CA390746917 rs1365128831 |
415 | G>E | No |
ClinGen TOPMed |
|
|
rs754947654 CA7297092 |
416 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297091 rs753747900 |
417 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386323776 CA390746888 |
418 | S>N | No |
ClinGen gnomAD |
|
|
CA390746881 rs1393656731 |
419 | E>Q | No |
ClinGen TOPMed |
|
|
CA390746830 rs1415266884 |
426 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390746813 rs1156324692 |
429 | K>Q | No |
ClinGen gnomAD |
|
|
rs753002105 CA390746790 |
432 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753002105 CA7297064 |
432 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374105066 CA7297062 |
433 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370750373 CA7297060 |
433 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374105066 CA7297063 |
433 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374105066 CA7297061 |
433 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390746780 rs199585731 |
434 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7297059 rs199585731 |
434 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390746781 rs199585731 |
434 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7297056 rs762113597 |
435 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772456068 CA7297057 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 436 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209341287 CA390746762 |
437 | F>S | No |
ClinGen gnomAD |
|
|
rs774003834 CA390746754 |
438 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297055 rs774003834 |
438 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390746753 rs1300150469 |
439 | F>L | No |
ClinGen gnomAD |
|
|
CA390746721 rs1198581093 |
443 | D>A | No |
ClinGen TOPMed |
|
|
CA264687810 rs760013580 |
445 | L>V | No |
ClinGen TOPMed |
|
|
rs960099037 CA264685748 |
447 | L>H | No |
ClinGen TOPMed |
|
|
CA264685736 rs1019851510 |
450 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557778528 CA7297027 |
451 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1057520151 CA390746649 |
452 | G>A | No |
ClinGen TOPMed |
|
|
rs1195834672 CA390746617 |
457 | S>N | No |
ClinGen TOPMed |
|
|
rs1454061121 CA390746602 |
459 | H>Q | No |
ClinGen TOPMed |
|
|
rs749555411 CA7297024 |
465 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534171316 CA7297023 |
466 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534171316 CA7297022 |
466 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1057518390 RCV000413526 |
467 | T>missing | No |
ClinVar dbSNP |
|
|
rs750431739 CA390746550 |
467 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750431739 CA7297021 |
467 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34134328 CA390746545 |
468 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7297020 rs757745501 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7297019 rs751972866 |
471 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7297018 rs369347167 |
473 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390746510 rs1305623126 |
475 | G>S | No |
ClinGen TOPMed |
|
|
CA390746502 rs1458195345 |
476 | S>G | No |
ClinGen gnomAD |
|
|
rs1414873125 CA390746501 |
476 | S>N | No |
ClinGen gnomAD |
|
|
CA7297016 rs775234578 |
478 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390746486 rs1348494454 |
478 | P>S | No |
ClinGen TOPMed |
|
|
CA390746470 rs759122249 |
481 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7297013 rs776279053 |
481 | P>L | No |
ClinGen ExAC |
|
|
rs896127104 CA264685609 |
482 | K>E | No |
ClinGen gnomAD |
|
|
CA264685596 rs1056412903 |
487 | P>L | No |
ClinGen gnomAD |
|
|
CA390746430 rs1056412903 |
487 | P>R | No |
ClinGen gnomAD |
|
|
CA390746427 rs1465273933 |
488 | S>G | No |
ClinGen gnomAD |
|
|
CA264685595 rs1017268936 |
488 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7297011 rs760656855 |
489 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA264685585 rs375581772 |
491 | K>R | No |
ClinGen ESP |
|
| TCGA novel | 497 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390746323 rs1338708723 |
500 | F>L | No |
ClinGen Ensembl |
|
|
CA390746313 rs1347431324 |
502 | S>G | No |
ClinGen gnomAD |
|
|
rs761731174 CA7296989 |
502 | S>T | No |
ClinGen ExAC |
|
|
CA390746305 rs1349512789 |
503 | E>* | No |
ClinGen gnomAD |
|
|
rs774001462 CA7296988 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391716085 CA390746257 |
510 | Q>E | No |
ClinGen gnomAD |
|
|
rs760730368 CA7296985 |
512 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs751786254 CA264683758 |
513 | V>I | No |
ClinGen Ensembl |
|
|
CA390746203 rs1257435092 |
518 | T>A | No |
ClinGen TOPMed |
|
|
CA7296983 rs747006038 |
518 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778349065 CA7296982 |
521 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1315435743 CA390746184 |
521 | E>K | No |
ClinGen TOPMed |
|
|
rs758827171 CA7296981 |
522 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370952794 CA390746170 |
523 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 524 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304137701 CA390746140 |
527 | H>P | No |
ClinGen gnomAD |
|
|
CA390746125 rs200960659 |
529 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7296974 rs761631708 |
532 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs774239455 CA7296973 |
535 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA390746075 rs1595194090 |
537 | R>S | No |
ClinGen Ensembl |
|
|
rs1178066370 CA390746064 |
539 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390746060 rs1595194079 |
540 | T>P | No |
ClinGen Ensembl |
|
|
rs1595194054 CA390746053 |
541 | W>G | No |
ClinGen Ensembl |
|
|
CA7296970 rs776857280 |
542 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7296968 rs771079019 |
543 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390746025 rs1289015582 |
545 | A>G | No |
ClinGen gnomAD |
|
|
rs1424340940 CA390746019 |
546 | S>C | No |
ClinGen gnomAD |
|
|
CA390746016 rs1258268626 |
547 | N>D | No |
ClinGen gnomAD |
|
|
CA390745976 rs1328516153 |
552 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1595193997 CA390745979 |
552 | I>T | No |
ClinGen Ensembl |
|
|
CA390745982 rs1348827874 |
552 | I>V | No |
ClinGen gnomAD |
|
|
CA7296964 rs779511828 |
554 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA390745957 rs1566972341 RCV000728985 |
555 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390745959 rs1428571249 |
555 | Y>C | No |
ClinGen gnomAD |
|
|
rs1159218630 CA390745951 |
556 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA264680166 rs912696793 |
558 | T>N | No |
ClinGen gnomAD |
|
|
CA390745924 rs912696793 |
558 | T>S | No |
ClinGen gnomAD |
|
|
CA264680086 rs386779713 |
562 | I>T | No |
ClinGen Ensembl |
|
|
rs987367229 CA264680147 |
562 | I>V | No |
ClinGen TOPMed |
|
|
rs756735161 CA7296941 |
563 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390745895 rs1285169653 |
563 | K>T | No |
ClinGen TOPMed |
|
|
CA390745876 rs1283585586 |
565 | D>E | No |
ClinGen gnomAD |
|
|
CA390745879 rs1340293257 |
565 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390745883 rs1393990784 |
565 | D>N | No |
ClinGen gnomAD |
|
|
rs751008420 CA7296940 |
566 | V>L | No |
ClinGen ExAC |
|
|
rs371792183 CA7296938 |
568 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7296937 rs200019401 |
569 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390745843 rs1437141914 |
571 | P>S | No |
ClinGen gnomAD |
|
|
CA264680053 rs962346415 |
572 | D>E | No |
ClinGen Ensembl |
|
|
CA390745824 rs1316993959 |
574 | G>E | No |
ClinGen gnomAD |
|
|
CA390745818 rs1184557571 |
575 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1423625765 CA390745792 |
579 | A>E | No |
ClinGen gnomAD |
|
|
rs1190930240 CA390745775 |
582 | V>I | No |
ClinGen gnomAD |
|
|
CA7296929 rs776098499 |
585 | G>D | No |
ClinGen ExAC |
|
|
rs1489705843 CA390745742 |
587 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756709858 CA264679982 |
589 | I>M | No |
ClinGen Ensembl |
|
|
rs894465095 CA390745713 |
591 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA264679980 rs894465095 |
591 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390745710 rs1360345372 |
592 | A>T | No |
ClinGen TOPMed |
|
|
rs1566969057 CA390745701 |
593 | R>T | No |
ClinGen Ensembl |
|
|
CA7296924 rs115018138 |
596 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390745643 rs1288442454 |
601 | A>E | No |
ClinGen gnomAD |
|
|
rs189385102 CA7296922 |
601 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7296920 rs752664357 |
603 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA390745623 rs1595189940 |
604 | S>F | No |
ClinGen Ensembl |
|
|
CA390745619 rs1337335506 |
605 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778850146 CA7296918 |
606 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929215561 CA264679898 |
607 | V>F | No |
ClinGen TOPMed |
|
|
CA390745599 rs1332265636 |
608 | T>I | No |
ClinGen gnomAD |
|
|
CA7296917 rs754732860 |
610 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1370833626 CA390745583 |
611 | L>V | No |
ClinGen gnomAD |
|
|
rs1468731789 CA390745562 |
612 | A>V | No |
ClinGen gnomAD |
|
|
rs1414457160 CA390745557 |
613 | G>E | No |
ClinGen gnomAD |
|
|
CA390745518 rs1175630333 |
618 | A>V | No |
ClinGen gnomAD |
|
|
CA7296891 rs377167343 |
619 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390745508 rs1210612295 |
620 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779864190 CA7296890 |
620 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755930402 CA7296889 |
621 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1329161897 CA390745497 |
622 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390745484 rs1308536313 |
624 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390745485 rs1308536313 |
624 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1435248644 CA390745488 |
624 | V>I | No |
ClinGen gnomAD |
|
|
rs758560030 CA7296886 |
625 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758560030 CA390745479 |
625 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA390745474 rs1206366086 |
626 | A>E | No |
ClinGen gnomAD |
|
|
CA390745477 rs1270646082 |
626 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 628 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7296882 rs776900917 |
629 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1336726861 | 629 | W>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595188646 CA390745423 |
634 | L>I | No |
ClinGen Ensembl |
|
|
CA7296876 rs771706640 |
635 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA390745381 rs1162671660 |
638 | G>V | No |
ClinGen gnomAD |
|
|
rs781113050 CA7296849 |
639 | H>L | Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 639 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7296850 rs781113050 |
639 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA390745378 rs1430230912 |
639 | H>Y | No |
ClinGen gnomAD |
|
|
rs1267822066 CA390745373 |
640 | F>L | No |
ClinGen TOPMed |
|
|
rs1168149247 CA390745370 |
640 | F>S | No |
ClinGen gnomAD |
|
|
rs386779710 CA264674684 |
641 | T>A | No |
ClinGen Ensembl |
|
|
CA7296847 rs421262 |
641 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7296846 rs755100827 |
642 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755100827 CA390745359 |
642 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1489700200 CA390745353 |
643 | G>D | No |
ClinGen gnomAD |
|
|
CA7296845 rs753856679 |
644 | M>I | No |
ClinGen ExAC |
|
|
CA390745350 rs1466841962 |
644 | M>V | No |
ClinGen TOPMed |
|
|
CA390745335 rs1206314643 |
646 | N>S | No |
ClinGen gnomAD |
|
|
rs1158521193 CA390745310 |
649 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7296842 rs750822991 |
656 | V>A | No |
ClinGen ExAC |
|
|
rs1313331512 CA390745259 |
657 | N>S | No |
ClinGen gnomAD |
|
|
rs762034337 CA7296840 |
660 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390745236 rs376099163 CA7296839 |
660 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762034337 CA390745240 |
660 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 663 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390745209 rs1372044217 |
664 | A>G | No |
ClinGen gnomAD |
|
|
rs762593303 CA7296837 |
665 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1461381844 RCV000995225 CA390745199 |
666 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs530417759 CA7296836 |
666 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7296834 rs759515663 |
668 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1595183565 CA390745182 |
669 | H>P | No |
ClinGen Ensembl |
|
|
rs1177955514 CA390745172 |
670 | S>F | No |
ClinGen gnomAD |
|
|
CA7296832 rs776674605 |
672 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390745139 rs1420527535 COSM1749009 |
675 | Q>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA390745106 rs1450544773 |
679 | F>C | No |
ClinGen gnomAD |
|
|
CA264674504 rs201596265 |
680 | L>P | No |
ClinGen gnomAD |
|
|
rs768745262 CA7296827 |
681 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7296826 rs749415816 |
682 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7296825 rs780073716 |
683 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA390745081 rs1334231006 |
684 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756141815 CA7296824 |
685 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM416583 rs529469325 CA7296823 |
685 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA390745072 rs1406731723 |
686 | R>Q | No |
ClinGen gnomAD |
1 associated diseases with P54803
[MIM: 245200]: Leukodystrophy, globoid cell (GLD)
An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269|PubMed:10234611, ECO:0000269|PubMed:10477434, ECO:0000269|PubMed:17579360, ECO:0000269|PubMed:20886637, ECO:0000269|PubMed:23462331, ECO:0000269|PubMed:8595408, ECO:0000269|PubMed:8786069, ECO:0000269|PubMed:8940268, ECO:0000269|PubMed:9272171}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269|PubMed:10234611, ECO:0000269|PubMed:10477434, ECO:0000269|PubMed:17579360, ECO:0000269|PubMed:20886637, ECO:0000269|PubMed:23462331, ECO:0000269|PubMed:8595408, ECO:0000269|PubMed:8786069, ECO:0000269|PubMed:8940268, ECO:0000269|PubMed:9272171}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P54803
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glycosyl hydrolase family 59, central domain | 357 - 472 | IPR035394 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.2.1.46 | Glycosidases, ie enzymes hydrolyzing O- and S-glycosyl compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| galactosylceramidase activity | Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| galactosylceramide catabolic process | The chemical reactions and pathways resulting in the breakdown of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group. |
| glycosphingolipid metabolic process | The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P54804 | GALC | Galactocerebrosidase | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P54818 | Galc | Galactocerebrosidase | Mus musculus (Mouse) | PR |
| O02791 | GALC | Galactocerebrosidase | Macaca mulatta (Rhesus macaque) | PR |
| Q95QT2 | C29E4.10 | Putative galactocerebrosidase | Caenorhabditis elegans | PR |
| Q5SNX7 | galc | Galactocerebrosidase | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEWLLSASW | QRRAKAMTAA | AGSAGRAAVP | LLLCALLAPG | GAYVLDDSDG | LGREFDGIGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSGGGATSRL | LVNYPEPYRS | QILDYLFKPN | FGASLHILKV | EIGGDGQTTD | GTEPSHMHYA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDENYFRGYE | WWLMKEAKKR | NPNITLIGLP | WSFPGWLGKG | FDWPYVNLQL | TAYYVVTWIV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAKRYHDLDI | DYIGIWNERS | YNANYIKILR | KMLNYQGLQR | VKIIASDNLW | ESISASMLLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AELFKVVDVI | GAHYPGTHSA | KDAKLTGKKL | WSSEDFSTLN | SDMGAGCWGR | ILNQNYINGY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MTSTIAWNLV | ASYYEQLPYG | RCGLMTAQEP | WSGHYVVESP | VWVSAHTTQF | TQPGWYYLKT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGHLEKGGSY | VALTDGLGNL | TIIIETMSHK | HSKCIRPFLP | YFNVSQQFAT | FVLKGSFSEI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PELQVWYTKL | GKTSERFLFK | QLDSLWLLDS | DGSFTLSLHE | DELFTLTTLT | TGRKGSYPLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PKSQPFPSTY | KDDFNVDYPF | FSEAPNFADQ | TGVFEYFTNI | EDPGEHHFTL | RQVLNQRPIT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WAADASNTIS | IIGDYNWTNL | TIKCDVYIET | PDTGGVFIAG | RVNKGGILIR | SARGIFFWIF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ANGSYRVTGD | LAGWIIYALG | RVEVTAKKWY | TLTLTIKGHF | TSGMLNDKSL | WTDIPVNFPK |
| 670 | 680 | ||||
| NGWAAIGTHS | FEFAQFDNFL | VEATR |