O75072
PR
Gene name |
FKTN |
Protein name |
Ribitol-5-phosphate transferase FKTN |
Names |
Fukutin, Fukuyama-type congenital muscular dystrophy protein, Ribitol-5-phosphate transferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2218 |
EC number |
|
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 O75072
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75072-F1 | Predicted | AlphaFoldDB |
478 variants for O75072
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003144467 RCV001809738 RCV000666220 rs1180986256 RCV001209576 |
1 | M>missing | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002526405 CA16612399 RCV000468655 rs1037406947 RCV002480381 |
3 | R>G | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000634056 rs757900916 CA374330798 |
4 | I>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1389073650 RCV000793747 CA374330803 |
4 | I>M | Walker-Warburg congenital muscular dystrophy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000697613 rs765929865 CA5170283 |
5 | N>D | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751473818 RCV000687790 CA5170284 |
5 | N>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5170287 rs368981218 RCV000253874 RCV000472415 RCV000519772 |
8 | V>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686195 CA5170286 RCV001567044 rs368981218 |
8 | V>M | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA295350 RCV000735003 rs145387221 RCV002483297 RCV001243305 RCV002426707 |
9 | V>F | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374330836 RCV000794083 rs1587865923 |
10 | L>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs939985733 CA197413048 RCV000634080 |
12 | L>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000800445 RCV000671524 RCV002282313 rs1309132512 |
14 | T>* | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000634064 RCV000079435 rs149033995 RCV002504991 CA221461 |
14 | T>M | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
CA374330863 rs149033995 RCV001224207 |
14 | T>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV000538044 RCV000730719 rs1554731003 CA374330897 |
20 | F>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA197413113 RCV000634070 rs374203636 |
28 | Y>C | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV003144502 CA5170296 RCV000689443 rs533603648 |
31 | Y>C | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16041290 RCV000410928 rs773884973 |
37 | G>* | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5170313 rs773884973 RCV003145436 RCV001229633 |
37 | G>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5170316 rs752663857 RCV000701309 |
42 | K>E | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1826853440 RCV001245041 |
46 | S>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119463990 RCV000003353 CA116054 RCV000594458 RCV000811518 |
47 | R>* | Variant assessed as Somatic; 0.0 impact. Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA5170318 rs753641411 RCV002388456 RCV003144606 RCV000797805 RCV002487673 |
47 | R>Q | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000353693 rs886044478 RCV001850470 CA10606804 |
48 | I>T | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16618726 RCV000479536 RCV001828511 RCV002404271 rs1064796459 |
52 | S>G | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244747 rs1826858068 |
55 | W>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001572926 CA285421 RCV000397538 RCV000368379 RCV000466034 RCV000079431 VAR_061296 rs41277797 RCV000619307 |
56 | R>C | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146951171 COSM486871 RCV001080549 RCV000245908 RCV000241990 RCV001167247 RCV000853033 CA285426 RCV001167248 RCV000079432 |
56 | R>H | kidney Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Hypertrophic cardiomyopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 stomach [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000634059 CA374331396 rs1554751104 |
57 | A>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554751112 RCV000673249 |
59 | K>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000003354 RCV002512701 rs587777813 |
63 | M>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554751136 RCV000665476 |
63 | M>I | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235647 rs762827229 |
65 | T>A | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321002 rs1827810710 |
66 | S>P | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1827815560 RCV001307774 |
72 | V>E | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467420 CA16612401 RCV002429495 RCV003144266 rs1060501407 |
74 | L>I | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs756178260 CA5170358 RCV001337657 |
75 | I>T | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003163589 RCV001209521 rs1827816995 |
75 | I>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757798867 CA5170361 RCV001223814 |
83 | I>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001246344 RCV002436222 RCV000315144 rs886063319 RCV000353497 CA10632118 |
93 | T>A | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5170364 RCV002440716 rs758798692 RCV000805844 |
98 | T>A | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817245 RCV000369724 rs376452959 CA5170366 |
98 | T>I | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000557459 rs376452959 CA5170365 RCV002438328 RCV003144321 |
98 | T>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768260007 RCV001246865 RCV000301055 CA5170367 |
99 | S>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10606342 RCV001064796 RCV000281998 rs886044095 |
101 | C>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757253023 RCV001211793 CA197434833 |
102 | K>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA236327 RCV002470786 RCV000171426 rs786205597 |
105 | C>F | Myopathy caused by variation in FKTN [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767865405 RCV001047619 |
110 | F>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855091 RCV000412460 rs767865405 RCV002487188 RCV000378928 |
111 | T>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119463995 RCV001851612 VAR_065050 CA116076 RCV000003368 RCV000675045 |
114 | A>T | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M MDDGC4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000003360 rs119463991 RCV001067436 CA116066 |
116 | Q>* | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1564284467 RCV000760654 CA374331819 RCV001855930 |
120 | W>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239898 RCV002518051 RCV001563975 RCV000259787 RCV001563974 RCV001563976 CA10606177 rs150591365 |
122 | N>K | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001231637 CA374331839 rs1376019203 |
123 | E>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs142783718 RCV001055264 CA5170397 RCV002348412 |
125 | G>D | Variant assessed as Somatic; 0.0 impact. Walker-Warburg congenital muscular dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA252623 RCV000003366 VAR_033926 rs34006675 RCV000079434 RCV000460207 RCV001794430 RCV000620119 |
125 | G>S | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 a patient diagnosed with Walker-Warburg syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465197 RCV000617672 rs142783718 CA5170396 RCV000318693 RCV000339279 RCV000261037 |
125 | G>V | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002356387 RCV000406544 RCV000766039 CA5170400 rs146049441 RCV000798367 |
128 | R>Q | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5170399 RCV000401396 rs767026996 RCV000634074 RCV000242853 |
128 | R>W | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5170401 RCV000634069 RCV000264741 RCV000357115 rs569778463 |
133 | M>V | Walker-Warburg congenital muscular dystrophy Dilated Cardiomyopathy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001065816 RCV002479389 rs1176794033 |
134 | G>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374331921 RCV000634071 rs1554752862 |
134 | G>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686455 rs1564290459 |
135 | F>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002492573 rs537001725 CA233995 RCV001068213 RCV000984176 RCV000153239 |
137 | C>* | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs745597550 RCV001234652 |
142 | S>N | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516258 RCV000410463 RCV001850944 |
144 | D>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588110929 RCV000803229 |
146 | R>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5170411 rs143748939 RCV000687793 RCV000396885 RCV002328768 RCV002502111 RCV001820816 |
146 | R>Q | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374332000 RCV001215398 rs1208639233 |
146 | R>W | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773305645 RCV000338247 RCV002328780 CA5170413 RCV001246019 |
148 | D>G | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001167831 rs200686690 RCV000594749 RCV000815833 CA5170415 RCV001167830 |
149 | G>R | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886044482 RCV000314433 CA10606812 RCV001312912 |
150 | I>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777748 RCV000003359 RCV001851611 |
152 | S>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197437602 rs977350409 RCV001829738 RCV000620579 |
153 | L>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001383504 RCV000479641 rs760731888 RCV002487209 |
154 | S>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828456809 RCV001342552 |
156 | T>N | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000149978 RCV000821201 CA295372 rs727502848 |
161 | H>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs980208971 CA197437673 RCV000634054 |
163 | I>M | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001225108 rs1828461999 |
163 | I>N | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA116080 rs119464997 RCV000003369 VAR_065051 |
170 | A>E | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MDDGA4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001044462 CA5170425 rs778818366 RCV000502129 RCV001755741 |
170 | A>T | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA374332147 RCV000821793 rs1432918466 |
171 | I>F | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs758166890 CA374332158 RCV001206295 |
172 | H>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA116061 RCV000626166 RCV000003358 rs119463996 VAR_065052 |
176 | F>S | Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MDDGC4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs746813994 RCV000314952 RCV002494881 RCV001850432 CA5170429 |
176 | F>V | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000825524 RCV001825682 rs1588112379 |
177 | H>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000367677 RCV001859615 CA5170432 RCV002487225 rs534638144 |
177 | H>Q | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002512702 rs119463994 RCV000003365 RCV000441410 CA252619 VAR_039287 |
179 | R>T | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy CMD1X [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs760170065 CA5170435 RCV002345789 RCV000801099 |
182 | N>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000670042 rs1448279636 RCV002531242 CA374332250 |
186 | H>R | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5170436 COSM1187791 rs767961629 RCV000799891 |
186 | H>Y | lung Walker-Warburg congenital muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001829487 RCV000766040 CA374332254 RCV000521466 rs1187674499 |
187 | G>S | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1828485095 RCV001341526 |
188 | H>Q | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197437854 rs988842962 RCV001320727 |
189 | L>F | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed |
|
RCV000814776 RCV003166338 rs760967116 CA5170438 |
190 | R>K | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001319145 CA5170439 rs763737649 RCV003145564 |
192 | K>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5170440 rs753503050 RCV001585720 RCV000796823 RCV002352333 |
195 | I>T | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5170441 RCV000477010 rs756748012 |
196 | D>Y | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000490403 RCV001594387 RCV000255310 rs746763506 RCV000590733 RCV000234557 CA5170446 RCV002503833 |
203 | R>* | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3763499 RCV000622089 RCV001682766 RCV001701496 VAR_033927 RCV002477228 RCV000322229 RCV000576490 RCV000379215 RCV001510532 RCV001701657 RCV000079437 rs34787999 CA147024 |
203 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy large_intestine Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000634058 CA5170447 rs778048703 RCV002360534 |
208 | G>D | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5170448 RCV001239934 rs749576551 RCV000246195 |
209 | R>C | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002532618 rs771109111 CA5170449 RCV000594352 |
209 | R>H | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345184 rs774612427 |
213 | A>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003162509 rs398123557 RCV000169031 RCV000079438 RCV002490691 RCV000472307 |
215 | D>* | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5170451 rs745975808 RCV000477244 |
215 | D>H | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001227979 rs1828504500 |
216 | R>K | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517160 RCV000409546 |
220 | Q>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554754678 RCV001854092 RCV000598091 |
220 | Q>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754081311 RCV001044980 CA5170467 |
220 | Q>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001167832 rs1293245717 RCV001167833 RCV002559606 CA374332493 RCV002365819 |
222 | V>I | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000361387 RCV000251420 RCV001083098 rs116105846 CA295361 |
223 | T>I | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002229751 rs373418195 RCV000700000 CA5170471 RCV002480051 RCV000726450 |
235 | P>T | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886042241 CA10603977 RCV001239545 RCV000724974 |
236 | M>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs562170364 CA197441437 RCV001071396 RCV002482142 |
237 | H>Q | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs1437925297 RCV003144322 RCV000550529 |
241 | E>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564301303 RCV001035695 |
243 | P>A | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1194640294 RCV001314677 CA374332632 |
244 | H>Y | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_065053 | 246 | R>G | MDDGB4 [UniProt] | Yes | UniProt |
| VAR_018278 | 250 | C>G | MDDGA4 [UniProt] | Yes | UniProt |
|
RCV003166018 CA374332691 rs1564301594 RCV001855931 RCV000760735 |
252 | Y>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886044467 CA10606792 RCV000329466 RCV002518139 |
253 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377417974 RCV001044487 CA5170477 COSM1103572 RCV002479277 |
256 | R>* | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy large_intestine endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000409829 rs1057516966 |
257 | A>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1829205310 RCV001063788 |
258 | F>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5170498 rs770440134 RCV000822433 |
263 | L>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000786133 CA10582611 rs878854165 RCV002494631 RCV000231247 |
268 | V>L | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002487283 RCV001169711 rs558187116 RCV000526522 RCV001169710 RCV000263255 RCV002429237 CA5170500 |
274 | R>W | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs199697041 CA5170504 RCV001326932 |
281 | L>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA5170507 RCV000354887 COSM74669 rs137951613 RCV000551417 |
285 | A>V | ovary Variant assessed as Somatic; 0.0 impact. Walker-Warburg congenital muscular dystrophy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA374377273 rs1438288380 RCV000814549 |
290 | K>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5170509 RCV001084591 RCV002374434 RCV001844104 RCV000255453 RCV000853034 rs755092516 |
290 | K>I | Walker-Warburg congenital muscular dystrophy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000707374 CA374377293 CA5170511 rs146900302 RCV002369975 |
293 | V>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1564319328 CA374377310 RCV000702443 |
295 | F>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367662190 RCV000252346 RCV001217618 CA5170513 |
299 | S>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374377353 rs1554757939 RCV000527420 |
302 | C>Y | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795218 RCV000003371 RCV002444418 RCV000498134 CA116088 RCV002496242 rs267606814 |
307 | R>* | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000634078 CA374377395 rs267606814 |
307 | R>G | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA116072 rs119463992 RCV001036532 RCV000724028 RCV001192872 RCV000003362 VAR_039288 RCV001254647 |
307 | R>Q | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MDDGB4 and MDDGC4; the mutant protein is expressed and localized correctly within the cell, decrease in ribitol-5-phosphate transferase activity. [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA5170538 RCV002494632 RCV000999196 COSM325354 rs776639304 RCV000234043 |
310 | N>S | lung Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588204815 RCV000811251 CA374377439 |
313 | P>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374377444 RCV000703234 RCV002369945 rs1451453111 |
314 | Y>C | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5170539 rs141120187 RCV000461067 |
318 | V>I | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001221105 rs1831143790 |
321 | G>R | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000727449 rs752721354 CA5170544 RCV001829512 COSM373734 |
337 | D>Y | lung Walker-Warburg congenital muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002404346 RCV000519404 rs539089647 CA5170564 RCV000634053 |
349 | V>A | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001345413 rs1831549660 |
349 | V>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1103575 CA5170567 RCV000546620 rs149085844 |
352 | S>R | Walker-Warburg congenital muscular dystrophy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000003364 VAR_039289 rs119463993 CA252615 |
358 | Q>P | Dilated cardiomyopathy 1X CMD1X [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA374377785 rs1588221689 RCV000809684 |
362 | D>E | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374377792 RCV003160348 RCV001046401 rs1362238936 |
363 | V>G | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000672890 RCV001218213 rs1554761310 |
367 | V>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327393 rs1831558425 |
368 | F>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374381691 RCV002497472 CA5170570 RCV002429730 RCV001068138 |
368 | F>L | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801939 RCV000411430 rs750176716 |
369 | F>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197452409 COSM1103576 rs905981141 RCV001318871 |
369 | F>L | Walker-Warburg congenital muscular dystrophy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000003370 CA116084 RCV002433443 rs119464998 RCV000554503 VAR_065054 |
371 | Y>C | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MDDGA4; loss of normal location in Golgi membranes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002325341 RCV000674108 rs1554761402 |
377 | M>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1200757732 RCV000634061 CA374377886 |
377 | M>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1048088668 CA197452422 RCV000794395 |
379 | N>D | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA374377944 rs1588222602 RCV000804630 |
385 | K>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067602 rs1831566546 |
386 | T>I | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000339058 RCV002509255 CA234000 RCV002498728 rs148975262 RCV000227560 RCV000723916 RCV000620716 RCV000406528 |
387 | G>R | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1831568665 RCV001350604 |
388 | K>Q | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991168 rs1588222870 |
390 | F>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476917 RCV000634081 rs398123555 RCV002326661 RCV000778871 RCV000003356 RCV000079427 RCV000003357 |
390 | F>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy FKTN-Related Disorders Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340441 rs1831570423 |
390 | F>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002536580 RCV000760536 RCV001245464 CA374378010 rs1203741361 CA374378009 RCV001780185 RCV002327598 |
392 | Y>* | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002332617 RCV000799124 CA5170588 rs752191412 |
392 | Y>H | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000516301 RCV002341207 rs1477740717 RCV000767062 CA374378027 RCV001359447 |
396 | K>Q | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554766841 RCV000669296 |
401 | W>missing | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5170596 rs776724595 RCV002541799 RCV001289425 RCV001835377 |
404 | F>L | Walker-Warburg congenital muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1833925629 RCV001234019 |
404 | F>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554766855 RCV001306593 RCV000664715 RCV000498658 |
406 | D>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1833929015 RCV001248660 |
409 | V>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001081484 CA5170600 RCV002365305 rs146272618 RCV000380549 RCV000766041 |
410 | H>N | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA374378170 rs765934383 RCV000673207 |
417 | E>* | Variant assessed as Somatic; impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1103578 CA5170603 RCV001247460 RCV001002114 RCV002487163 rs765934383 RCV000591649 RCV000248494 |
417 | E>K | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000802878 CA10604909 rs543684877 RCV000322429 RCV002411151 |
417 | E>V | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810998 rs1588315166 RCV002487764 RCV002440750 |
421 | A>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000674450 rs1554766898 RCV001362860 |
422 | N>missing | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1833935107 RCV001321983 |
422 | N>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752358445 RCV002222481 CA5170605 RCV000459192 RCV000267506 |
424 | G>S | Walker-Warburg congenital muscular dystrophy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA197462022 rs938548521 RCV001204240 |
428 | K>N | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620492 RCV000390697 CA295366 RCV000149976 RCV000473598 RCV000853035 RCV001081187 RCV000314345 rs141918432 |
433 | T>A | Dilated cardiomyopathy 1X Cardiomyopathy Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201590151 RCV000691951 COSM200628 CA5170606 |
433 | T>M | Variant assessed as Somatic; 0.0 impact. Walker-Warburg congenital muscular dystrophy large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000403101 rs150852885 RCV001056380 CA5170608 |
438 | R>C | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886042778 RCV000559941 RCV000398696 |
440 | P>missing | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693069 CA374378331 rs1564357396 |
440 | P>L | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374378341 RCV001218466 RCV001729816 rs1429464723 |
442 | N>S | Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000029801 VAR_018279 RCV000079428 RCV000231310 CA285415 RCV000991977 RCV001167309 RCV000620456 rs41313301 RCV001167904 |
446 | N>D | Cardiomyopathy Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5170613 RCV001167905 RCV002383954 RCV001082102 rs374912618 RCV001167906 RCV000498728 |
446 | N>I | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000634068 CA5170614 rs374912618 RCV000594573 RCV000766042 RCV002384299 |
446 | N>S | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002505614 RCV001057060 CA5170618 rs759936979 RCV002379571 |
453 | E>K | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000003361 rs587777814 |
455 | D>missing | Autosomal recessive limb-girdle muscular dystrophy type 2M [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5170620 RCV001041072 rs775183646 COSM752159 |
457 | V>I | lung Variant assessed as Somatic; 0.0 impact. Walker-Warburg congenital muscular dystrophy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1833947279 RCV001039191 |
460 | L>S | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000149977 RCV001293213 RCV000791654 rs727502847 |
461 | Y>missing | Walker-Warburg congenital muscular dystrophy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002485935 RCV001242838 RCV000734168 RCV002386308 rs775366895 |
461 | Y>missing | Dilated cardiomyopathy 1X Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760285197 RCV001298290 |
461 | Y>N | Walker-Warburg congenital muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1350049256 CA374330791 |
2 | S>R | No |
ClinGen TOPMed |
|
|
rs757900916 CA5170282 |
4 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374330801 rs1427251653 |
4 | I>T | No |
ClinGen TOPMed |
|
|
rs1415805806 CA374330814 |
6 | K>R | No |
ClinGen gnomAD |
|
|
rs755870328 CA5170288 |
8 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1377596627 CA374330832 |
9 | V>A | No |
ClinGen gnomAD |
|
|
rs145387221 CA374330830 |
9 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939985733 CA374330848 |
12 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272573854 CA374330877 |
17 | S>R | No |
ClinGen gnomAD |
|
|
rs1587866172 CA374330886 |
18 | S>Y | No |
ClinGen Ensembl |
|
|
CA5170291 rs769161688 |
21 | L>Q | No |
ClinGen ExAC |
|
|
CA374330930 rs1454201300 |
25 | L>* | No |
ClinGen gnomAD |
|
|
CA374330933 rs188900946 |
25 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1379725178 CA374330940 |
26 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867971470 CA197413112 |
27 | Y>H | No |
ClinGen Ensembl |
|
|
rs1554731028 RCV000518924 |
28 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1395356843 CA374330962 |
29 | K>R | No |
ClinGen gnomAD |
|
|
CA197413119 rs1054946778 |
30 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751029878 CA5170298 |
35 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470562413 CA374331031 |
37 | G>E | No |
ClinGen TOPMed |
|
|
CA374331034 rs1231555305 |
38 | A>T | No |
ClinGen gnomAD |
|
|
rs895732554 CA197430655 |
38 | A>V | No |
ClinGen Ensembl |
|
|
rs1051378547 CA197430677 |
39 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374331089 rs1489516344 |
46 | S>T | No |
ClinGen gnomAD |
|
|
CA5170319 rs376468584 |
51 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5170320 rs780356940 |
54 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA374331149 rs1458332751 |
55 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA374331418 rs886042513 |
60 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
| TCGA novel | 61 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5170354 rs772840681 |
63 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238441242 CA374331453 |
65 | T>I | No |
ClinGen TOPMed |
|
|
rs762827229 CA5170355 |
65 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5170356 rs767577559 |
66 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374331527 rs1412923419 |
76 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 77 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411837740 CA374331541 |
79 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764212893 CA5170359 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371697266 CA5170360 |
80 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374331548 rs1404872177 |
80 | L>V | No |
ClinGen gnomAD |
|
|
CA197434744 rs761389602 |
82 | L>F | No |
ClinGen Ensembl |
|
|
rs1295912375 CA374331590 |
86 | N>T | No |
ClinGen gnomAD |
|
|
CA374331643 rs1346912007 |
93 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374331651 rs1400272917 |
94 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374331665 rs1376420472 |
96 | G>V | No |
ClinGen gnomAD |
|
|
CA374331671 rs1453857604 |
97 | S>C | No |
ClinGen TOPMed |
|
|
rs776322146 CA5170368 |
103 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs747694613 CA5170369 |
106 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA590046764 rs1564283537 |
107 | P>L | No |
ClinGen Ensembl |
|
|
rs1031480985 CA197434867 |
115 | L>M | No |
ClinGen TOPMed |
|
|
CA5170374 rs766258990 |
115 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160796399 CA374331790 |
116 | Q>L | No |
ClinGen gnomAD |
|
|
rs1160796399 CA374331789 |
116 | Q>R | No |
ClinGen gnomAD |
|
|
CA374331794 rs1419918991 |
117 | Y>H | No |
ClinGen gnomAD |
|
|
CA5170375 rs775672119 |
117 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374331800 rs1231496612 |
118 | H>N | No |
ClinGen TOPMed |
|
|
CA374331828 rs1449611986 |
121 | K>N | No |
ClinGen gnomAD |
|
|
CA374331859 rs1263074681 |
124 | E>G | No |
ClinGen gnomAD |
|
|
rs142783718 CA5170398 |
125 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374331892 rs1197160726 |
130 | A>T | No |
ClinGen gnomAD |
|
|
CA197437433 rs752196884 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA466659321 rs1422204429 |
135 | F>A | No |
ClinGen gnomAD |
|
|
CA5170404 rs755566181 |
136 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752457293 CA5170403 |
136 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs958771636 CA197437444 |
137 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5170407 rs778836844 |
140 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5170406 rs140014129 |
140 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374331969 rs1402162868 |
141 | E>G | No |
ClinGen TOPMed |
|
|
CA5170408 rs745597550 |
142 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5170409 rs771921453 |
144 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA197437531 rs776820422 |
145 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5170410 rs776820422 |
145 | P>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000149974 CA295356 rs727502846 |
147 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5170416 rs752114639 |
150 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA5170417 rs759971815 |
151 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763683865 CA5170422 |
159 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5170421 rs755830677 |
159 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374332075 rs755830677 |
159 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs753338116 CA5170423 |
161 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10606484 rs886044210 RCV000353084 |
162 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA374332091 rs1288151592 |
162 | Y>H | No |
ClinGen TOPMed |
|
|
CA374332098 rs1245581773 |
163 | I>V | No |
ClinGen TOPMed |
|
|
CA197437681 rs924251570 |
166 | L>Q | No |
ClinGen Ensembl |
|
|
rs1340015717 CA374332134 |
168 | T>I | No |
ClinGen gnomAD |
|
|
rs1243169303 CA374332136 |
169 | H>D | No |
ClinGen gnomAD |
|
|
CA374332146 rs119464997 |
170 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5170427 rs758166890 |
172 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA374332160 rs1436386821 |
172 | H>Q | No |
ClinGen gnomAD |
|
|
rs749663903 CA197437781 |
174 | V>I | No |
ClinGen Ensembl |
|
|
rs773322779 CA5170431 |
177 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA5170430 rs369354758 |
177 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374332200 rs119463994 |
179 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs774982036 CA5170434 |
181 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA374332213 rs1157802235 |
181 | G>R | No |
ClinGen gnomAD |
|
|
rs1424933301 CA374332230 |
183 | Y>* | No |
ClinGen TOPMed |
|
|
rs1163774436 CA374332224 |
183 | Y>N | No |
ClinGen TOPMed |
|
|
rs1448279636 CA374332251 |
186 | H>L | No |
ClinGen TOPMed |
|
|
rs1394388041 CA374332257 |
187 | G>V | No |
ClinGen gnomAD |
|
|
CA197437853 rs192298554 |
188 | H>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA374332260 rs192298554 |
188 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA374332268 rs1588112870 |
189 | L>V | No |
ClinGen Ensembl |
|
|
rs913443701 CA197437856 |
190 | R>* | No |
ClinGen TOPMed |
|
|
CA374332275 rs760967116 |
190 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374332293 rs1307520547 |
193 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5170443 rs148563208 |
196 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756748012 CA5170442 |
196 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5170444 rs758295452 |
197 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA197437965 rs561326084 |
198 | K>E | No |
ClinGen Ensembl |
|
|
rs779881130 CA5170445 |
199 | F>C | No |
ClinGen ExAC |
|
|
CA374332346 rs1588113221 |
201 | P>A | No |
ClinGen Ensembl |
|
|
rs1564292744 CA374332364 |
204 | K>T | No |
ClinGen Ensembl |
|
|
rs1461669175 CA374332386 |
207 | F>V | No |
ClinGen gnomAD |
|
|
CA5170450 rs774612427 |
213 | A>G | No |
ClinGen ExAC |
|
|
rs978338266 CA197441293 |
218 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA197441317 rs924215153 |
221 | Q>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 221 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374332516 VAR_036334 CA5170468 COSM32802 rs779298204 |
225 | D>E | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1298422772 COSM32801 CA374332510 VAR_036335 |
225 | D>N | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA374332524 rs1564300947 |
227 | L>V | No |
ClinGen Ensembl |
|
|
rs772111890 CA5170470 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217525196 CA374332541 |
230 | L>I | No |
ClinGen gnomAD |
|
|
CA197441373 rs1002103251 |
230 | L>P | No |
ClinGen Ensembl |
|
|
CA197441374 RCV002360857 RCV000732552 rs1034968484 |
232 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886042669 CA10604540 RCV000351070 |
233 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs373418195 CA5170472 |
235 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769033293 CA5170473 |
236 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987784513 CA197441434 |
237 | H>Y | No |
ClinGen Ensembl |
|
|
CA374332602 rs1476968067 |
239 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 241 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374332628 RCV000729521 rs1564301303 |
243 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA197441444 rs774796040 |
244 | H>R | No |
ClinGen gnomAD |
|
|
CA5170474 rs776945221 |
245 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913565079 CA197441450 |
247 | F>V | No |
ClinGen Ensembl |
|
|
CA374332669 rs1487419402 |
249 | E>G | No |
ClinGen gnomAD |
|
|
rs398123558 CA221467 RCV000589360 |
250 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762191272 CA5170475 |
250 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA374332683 rs1477638259 |
251 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374332680 rs1269924454 |
251 | R>W | No |
ClinGen gnomAD |
|
|
CA5170476 rs574626895 |
252 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA197441507 rs377417974 |
256 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765860949 CA5170479 |
256 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374332719 rs886044660 |
257 | A>G | No |
ClinGen Ensembl |
|
|
rs542082455 CA5170480 |
257 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10607029 rs886044660 RCV000265178 |
257 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1274816465 CA374332731 |
259 | F>Y | No |
ClinGen TOPMed |
|
| rs1459814015 | 260 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374377101 rs1564318575 |
263 | L>R | No |
ClinGen Ensembl |
|
|
CA374377104 rs1368205284 |
264 | D>H | No |
ClinGen TOPMed |
|
|
CA374377112 rs1372525892 |
265 | D>H | No |
ClinGen gnomAD |
|
|
CA5170499 rs773690799 |
267 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1276434668 CA374377157 |
272 | A>T | No |
ClinGen TOPMed |
|
|
rs1315400108 CA374377161 |
272 | A>V | No |
ClinGen gnomAD |
|
|
CA5170501 rs767503045 |
274 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1564318853 CA374377189 |
276 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 278 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760534318 CA5170503 |
279 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs775571457 CA5170502 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5170506 rs758509727 |
281 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374377257 rs1403197421 |
287 | T>I | No |
ClinGen TOPMed |
|
|
CA374377266 rs1380069538 |
289 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374377274 rs1438288380 |
290 | K>E | No |
ClinGen gnomAD |
|
|
CA374377286 rs1409658785 |
291 | L>F | No |
ClinGen gnomAD |
|
|
CA5170510 rs781664273 |
292 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1356938119 CA374377299 |
294 | P>S | No |
ClinGen gnomAD |
|
|
CA5170512 rs756446117 |
296 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs367662190 CA374377332 |
299 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA197448026 rs909129168 |
300 | G>R | No |
ClinGen TOPMed |
|
|
rs147778604 CA5170514 |
303 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179427527 CA374377360 |
303 | L>P | No |
ClinGen TOPMed |
|
|
rs771679473 CA5170535 |
306 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA374377389 rs1273352010 |
306 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768660101 CA5170537 |
309 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1564325748 CA374377422 |
311 | I>F | No |
ClinGen Ensembl |
|
|
rs1564325766 CA374377424 |
311 | I>T | No |
ClinGen Ensembl |
|
|
CA374377447 rs970907026 |
314 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1224923600 CA374377454 |
315 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 316 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769691253 CA5170540 |
324 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1481232031 CA374377511 |
324 | I>V | No |
ClinGen gnomAD |
|
|
rs774410536 CA5170541 |
325 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs759791267 CA5170542 |
326 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197450239 rs759791267 |
326 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5170543 rs767753943 |
327 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1396923843 CA374377545 |
329 | S>T | No |
ClinGen gnomAD |
|
|
rs1414568181 CA374377555 |
330 | D>G | No |
ClinGen TOPMed |
|
|
CA374377563 rs1367635040 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs1301487184 CA374377560 |
331 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405799130 CA374377583 |
334 | A>E | No |
ClinGen gnomAD |
|
|
rs1405799130 CA374377585 |
334 | A>V | No |
ClinGen gnomAD |
|
|
CA5170545 rs760756067 |
337 | D>V | No |
ClinGen ExAC |
|
|
CA197450297 rs751122944 |
339 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 340 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374377626 rs886044385 |
341 | P>A | No |
ClinGen gnomAD |
|
|
rs764441249 CA5170546 COSM3847265 |
341 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000325949 CA10606692 rs886044385 COSM3847266 |
341 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA5170548 rs750787127 |
346 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1294432294 CA374377676 |
348 | K>R | No |
ClinGen gnomAD |
|
|
rs750759323 CA5170565 |
350 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs942060927 CA197452353 |
351 | D>E | No |
ClinGen Ensembl |
|
|
COSM1103575 rs758841311 CA5170566 |
352 | S>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1266595232 CA374377717 |
353 | L>M | No |
ClinGen gnomAD |
|
|
rs1039466532 CA197452368 |
356 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1445072382 CA374377748 |
357 | F>L | No |
ClinGen gnomAD |
|
|
rs1158242019 CA374377773 |
361 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5170571 rs780791268 |
369 | F>S | No |
ClinGen ExAC gnomAD |
|
| rs750176716 | 369 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5170573 rs371776972 |
373 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749014759 CA5170574 |
375 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374377888 rs1435911736 |
377 | M>T | No |
ClinGen TOPMed |
|
|
rs1205508080 CA374377910 |
380 | G>R | No |
ClinGen TOPMed |
|
|
rs1477356731 CA374377927 |
382 | T>I | No |
ClinGen gnomAD |
|
|
CA374377936 rs1343750016 |
384 | A>T | No |
ClinGen gnomAD |
|
|
rs1461738191 CA374377970 |
389 | K>E | No |
ClinGen gnomAD |
|
|
rs747280605 CA5170576 |
390 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383324318 CA590046790 |
392 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1249398294 CA374378011 |
393 | L>M | No |
ClinGen gnomAD |
|
|
CA5170589 rs374962879 |
393 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5170591 rs757023910 |
394 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA295377 rs727502849 |
394 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201619662 CA374378026 |
395 | P>L | No |
ClinGen gnomAD |
|
|
rs1356621574 CA374378063 |
401 | W>R | No |
ClinGen gnomAD |
|
|
rs371464705 CA197461940 |
402 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374378075 rs371464705 |
402 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA197461978 rs952751998 |
405 | V>A | No |
ClinGen TOPMed |
|
|
CA197461962 rs1016336285 |
405 | V>I | No |
ClinGen Ensembl |
|
|
CA374378102 rs760470596 |
406 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200091271 RCV000729404 CA197461986 |
408 | K>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1348045792 CA374378122 |
409 | V>A | No |
ClinGen TOPMed |
|
|
rs983944100 CA197461991 |
409 | V>F | No |
ClinGen TOPMed |
|
|
CA374378129 rs189927779 |
410 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374378126 rs1375258599 |
410 | H>R | No |
ClinGen TOPMed |
|
|
rs146272618 CA5170599 |
410 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374378134 rs1213906013 |
411 | V>A | No |
ClinGen gnomAD |
|
|
CA197462000 rs138836248 |
413 | C>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 414 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 416 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204903396 CA374378195 |
420 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs938689811 CA197462018 |
423 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5170604 rs199918689 |
423 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374378261 rs1185261728 |
429 | I>T | No |
ClinGen gnomAD |
|
|
rs1323661704 CA374378264 |
430 | P>A | No |
ClinGen gnomAD |
|
|
rs1564357214 CA374378273 |
431 | V>G | No |
ClinGen Ensembl |
|
|
CA374378282 rs1242717072 |
432 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs570224071 CA197462039 |
434 | W>R | No |
ClinGen Ensembl |
|
|
rs1043227892 CA197462053 |
435 | D>E | No |
ClinGen Ensembl |
|
|
CA5170607 rs377684183 |
435 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 435 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139291792 CA5170609 |
438 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs139291792 CA5170610 |
438 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA374378325 rs1365633081 |
439 | S>C | No |
ClinGen gnomAD |
|
|
rs758196050 CA5170611 |
439 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374378342 rs1429464723 |
442 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1286642744 CA374378357 |
444 | Q>R | No |
ClinGen gnomAD |
|
|
CA5170612 rs781465422 |
445 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs936859718 CA197462087 |
445 | P>L | No |
ClinGen Ensembl |
|
|
rs1188346211 CA374378374 |
447 | G>V | No |
ClinGen gnomAD |
|
|
rs374010294 CA5170615 |
450 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374378395 rs374010294 |
450 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5170616 rs144356253 |
452 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5170617 rs775000597 |
452 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374378409 rs1213670787 |
453 | E>V | No |
ClinGen gnomAD |
|
|
CA197462117 rs1052013237 |
454 | W>R | No |
ClinGen Ensembl |
|
|
CA5170619 rs772377836 |
455 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5170622 rs760285197 |
461 | Y>H | No |
ClinGen ExAC gnomAD |
No associated diseases with O75072
2 regional properties for O75072
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Polyprenyl synthetase, conserved site | 90 - 104 | IPR033749-1 |
| conserved_site | Polyprenyl synthetase, conserved site | 224 - 236 | IPR033749-2 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cis-Golgi network | The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of Golgi membrane | The component of the Golgi membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphotransferase activity, for other substituted phosphate groups | Catalysis of the transfer of a substituted phosphate group, other than diphosphate or nucleotidyl residues, from one compound (donor) to a another (acceptor). |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of JNK cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| protein O-linked mannosylation | The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage. |
| regulation of protein glycosylation | Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8R507 | Fktn | Ribitol-5-phosphate transferase FKTN | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRINKNVVL | ALLTLTSSAF | LLFQLYYYKH | YLSTKNGAGL | SKSKGSRIGF | DSTQWRAVKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FIMLTSNQNV | PVFLIDPLIL | ELINKNFEQV | KNTSHGSTSQ | CKFFCVPRDF | TAFALQYHLW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNEEGWFRIA | ENMGFQCLKI | ESKDPRLDGI | DSLSGTEIPL | HYICKLATHA | IHLVVFHERS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GNYLWHGHLR | LKEHIDRKFV | PFRKLQFGRY | PGAFDRPELQ | QVTVDGLEVL | IPKDPMHFVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVPHSRFIEC | RYKEARAFFQ | QYLDDNTVEA | VAFRKSAKEL | LQLAAKTLNK | LGVPFWLSSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TCLGWYRQCN | IIPYSKDVDL | GIFIQDYKSD | IILAFQDAGL | PLKHKFGKVE | DSLELSFQGK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DDVKLDVFFF | YEETDHMWNG | GTQAKTGKKF | KYLFPKFTLC | WTEFVDMKVH | VPCETLEYIE |
| 430 | 440 | 450 | 460 | ||
| ANYGKTWKIP | VKTWDWKRSP | PNVQPNGIWP | ISEWDEVIQL | Y |