O75419
PR
Gene name |
CDC45 |
Protein name |
Cell division control protein 45 homolog |
Names |
PORC-PI-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8318 |
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
487 variants for O75419
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10586198 VAR_080963 RCV000239478 rs879255633 |
68 | Q>R | Meier-Gorlin syndrome 7 MGORS7; decreased protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000239492 rs879255632 CA10586197 VAR_080964 |
76 | N>H | Meier-Gorlin syndrome 7 MGORS7; decreased protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs752023208 RCV000850142 |
111 | N>missing | Meier-Gorlin syndrome 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200034634 RCV000732596 RCV002535283 CA10101027 |
124 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs9606030 CA10101048 VAR_080965 |
155 | E>G | MGORS7; unknown pathological significance; associated in cis with T-321 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_080966 RCV000239541 RCV002518543 CA10101049 rs540217942 |
157 | R>C | Meier-Gorlin syndrome 7 Variant assessed as Somatic; 0.0 impact. MGORS7; decreased protein level [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754080445 CA10101192 VAR_080967 RCV000239518 |
226 | D>G | Meier-Gorlin syndrome 7 MGORS7; decreased protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_080968 CA322059698 rs151279621 RCV000755730 |
264 | S>Y | Meier-Gorlin syndrome 7 MGORS7; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
CA10586199 RCV000239581 rs146559223 VAR_080969 |
298 | A>V | Meier-Gorlin syndrome 7 MGORS7; decreased protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080970 | 321 | P>T | MGORS7; unknown pathological significance; associated in cis with G-155 [UniProt] | Yes | UniProt |
|
RCV000850143 rs540900837 RCV002535741 CA10101308 |
341 | R>W | Meier-Gorlin syndrome 7 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_080971 | 424 | R>del | MGORS7; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000755754 rs751663397 VAR_080972 RCV002536554 CA10101428 |
463 | P>L | Meier-Gorlin syndrome 7 MGORS7; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001855864 rs1376596361 RCV000755756 CA410669365 VAR_080973 |
496 | P>L | Meier-Gorlin syndrome 7 MGORS7; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002547344 RCV001335752 rs144764074 CA10101471 |
509 | I>V | Meier-Gorlin syndrome 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200986651 CA10101516 RCV001252822 RCV002068803 |
540 | N>D | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10101550 RCV000997863 VAR_080974 RCV000239595 rs778665661 |
554 | R>W | Meier-Gorlin syndrome 7 Variant assessed as Somatic; 0.0 impact. MGORS7; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA410679118 rs1199563606 |
2 | F>Y | No |
ClinGen TOPMed |
|
|
CA410679129 rs1301054523 |
4 | S>A | No |
ClinGen gnomAD |
|
|
rs199753286 CA10100881 |
4 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10100882 rs371100740 |
6 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147730653 CA10100883 RCV000997861 |
7 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA322093674 rs1037976328 |
8 | K>E | No |
ClinGen gnomAD |
|
|
rs751141981 CA10100884 |
8 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10100886 rs781002768 |
9 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10100887 rs745505016 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745505016 CA410679181 |
12 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601912662 CA410679193 |
13 | V>G | No |
ClinGen Ensembl |
|
|
rs141041145 CA10100890 |
14 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10100889 rs756505067 |
14 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10100888 rs756505067 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425660327 CA410679239 |
18 | R>S | No |
ClinGen gnomAD |
|
|
rs903777460 CA322093778 |
19 | V>D | No |
ClinGen gnomAD |
|
|
rs777563505 CA10100921 |
20 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474933224 CA410679263 |
22 | F>L | No |
ClinGen TOPMed |
|
|
CA410679268 rs1295303212 |
23 | V>G | No |
ClinGen gnomAD |
|
|
rs767186293 CA10100922 |
23 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749976287 CA10100923 |
24 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410679271 rs1384775311 |
24 | A>T | No |
ClinGen gnomAD |
|
|
rs749976287 CA410679273 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410679282 rs1353770557 |
26 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 29 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284417396 CA410679318 |
31 | C>F | No |
ClinGen gnomAD |
|
|
rs1445914274 CA410679337 |
34 | K>* | No |
ClinGen gnomAD |
|
|
CA10100925 rs766064032 |
34 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10100926 rs753376750 |
35 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA322094220 rs915748043 |
38 | A>D | No |
ClinGen TOPMed |
|
|
CA410679375 rs1302189656 |
38 | A>P | No |
ClinGen gnomAD |
|
|
CA410679374 rs1302189656 |
38 | A>T | No |
ClinGen gnomAD |
|
|
CA410679384 rs751994955 |
39 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329158042 CA410679387 |
40 | F>L | No |
ClinGen gnomAD |
|
|
rs995733252 CA322094236 |
41 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757423519 CA10100952 |
42 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs934693934 CA322094264 |
45 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410679431 rs1284584966 |
46 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1284584966 CA410679430 |
46 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1026749546 CA322094271 |
46 | Q>R | No |
ClinGen Ensembl |
|
|
rs760531988 CA10100955 |
48 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10100954 rs746152491 |
48 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10100956 rs543330227 |
50 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410679471 rs1212661430 |
53 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528501579 CA10100959 |
54 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410679477 rs1482158028 |
54 | G>R | No |
ClinGen gnomAD |
|
|
rs965036881 CA322094291 |
55 | W>R | No |
ClinGen Ensembl |
|
|
RCV001318446 rs1264224614 CA410679489 |
56 | Q>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 59 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10100960 rs746919823 |
60 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs375060605 CA322094299 |
63 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1430158206 CA410679555 |
65 | H>R | No |
ClinGen gnomAD |
|
|
rs545468684 CA10100962 |
67 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1476248494 CA410679597 |
69 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410679604 rs1321282566 |
70 | H>L | No |
ClinGen gnomAD |
|
|
rs145623330 CA10100981 |
70 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410679613 rs1219484236 |
71 | Y>F | No |
ClinGen gnomAD |
|
|
CA410679620 rs1262629632 |
72 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410679633 rs1315513635 |
74 | L>F | No |
ClinGen TOPMed |
|
|
rs1189184915 CA410679652 |
77 | C>R | No |
ClinGen gnomAD |
|
|
RCV001044131 CA10100982 rs745391711 |
77 | C>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA410679681 rs1414073460 |
81 | V>A | No |
ClinGen gnomAD |
|
|
CA10100984 VAR_019286 RCV000955849 rs13447203 |
81 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs762559397 CA10100985 |
82 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA410679685 rs1301482835 |
82 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 83 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746896071 CA10100986 |
83 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10100987 rs774603268 |
84 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10100988 rs372564628 |
86 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410679718 rs1355377197 |
87 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10100989 rs200116606 |
89 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750888877 CA410679739 |
90 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs766565951 CA10100992 |
93 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10100993 rs754156639 |
93 | T>N | No |
ClinGen ExAC |
|
|
rs755271601 CA322095255 |
94 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410679762 rs1423004676 |
94 | I>V | No |
ClinGen TOPMed |
|
|
RCV001343524 CA10100997 rs200688643 |
101 | H>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781048422 CA10100998 |
105 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101000 rs769332983 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410679850 rs769332983 |
107 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482788384 CA410679859 |
108 | N>S | No |
ClinGen gnomAD |
|
|
rs141251175 CA322095287 |
111 | N>D | No |
ClinGen ESP TOPMed |
|
| rs1378094381 | 111 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410679880 rs1157690835 |
111 | N>S | No |
ClinGen gnomAD |
|
|
rs768226051 CA410679884 |
112 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768226051 CA10101004 |
112 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773987825 CA10101005 |
113 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779928712 CA10101022 |
115 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA410679924 rs1274928315 |
116 | K>E | No |
ClinGen gnomAD |
|
|
CA10101023 rs575366448 |
117 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA410679939 rs1568912348 |
118 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758575467 CA322095923 |
119 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000958172 rs149459036 CA10101025 |
122 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754454198 CA10101024 |
122 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101026 rs149459036 |
122 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410679974 rs1490702507 |
123 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10101028 rs554571750 |
125 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1174004981 CA410680012 |
129 | A>D | No |
ClinGen gnomAD |
|
|
CA10101030 rs369176967 |
129 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866965652 CA322095976 |
131 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775615531 CA10101034 |
132 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101033 rs765355152 |
132 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410680037 rs1354849376 |
133 | I>V | No |
ClinGen TOPMed |
|
|
CA410680051 rs1237163419 |
135 | R>G | No |
ClinGen TOPMed |
|
|
CA410680062 rs1434303581 |
136 | D>G | No |
ClinGen gnomAD |
|
|
CA410680058 rs1329408388 |
136 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410680060 rs1329408388 |
136 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA322096001 rs746926103 |
138 | E>G | No |
ClinGen Ensembl |
|
|
RCV000997862 rs61752240 CA10101039 |
140 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10101040 rs766316844 |
140 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101041 rs753801276 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs140290119 CA322096015 |
143 | H>R | No |
ClinGen ESP |
|
| TCGA novel | 146 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10101042 rs377186449 |
146 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1362059581 CA410680132 |
146 | N>S | No |
ClinGen gnomAD |
|
|
rs778459455 CA10101043 |
147 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145708400 CA10101044 |
148 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101045 rs758094694 CA410680148 |
148 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410680152 rs1218606027 |
149 | D>G | No |
ClinGen gnomAD |
|
|
rs1025020064 CA322096042 |
149 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1362818123 CA410680169 |
152 | E>Q | No |
ClinGen TOPMed |
|
|
CA322096066 rs957839823 |
157 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10101051 rs769448408 |
159 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001325235 CA322096076 rs769448408 |
159 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs373418450 CA10101050 |
159 | R>W | No |
ClinGen ESP ExAC |
|
|
rs1162888615 CA410680224 |
161 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1162888615 CA410680223 |
161 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs202172934 CA10101052 |
162 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322096077 rs112518152 |
162 | E>G | No |
ClinGen Ensembl |
|
|
CA10101068 rs751248371 |
163 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781673100 CA10101070 |
166 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410664369 rs1338268214 |
169 | M>L | No |
ClinGen gnomAD |
|
|
CA10101071 rs746168242 |
169 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202209270 CA410664383 |
170 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101073 rs202209270 |
170 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374053511 CA322051767 |
170 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410664416 rs1258266377 |
173 | Q>R | No |
ClinGen gnomAD |
|
|
rs774624692 CA10101076 |
174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184924520 CA10101075 RCV001300251 |
174 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs913329845 CA322051788 |
175 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10101077 rs761996349 |
175 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761996349 CA10101078 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776510033 CA10101079 |
176 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765230795 CA10101081 |
179 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759216014 CA10101080 |
179 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA410664483 rs944765107 |
180 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10101082 rs200414830 |
180 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322051838 rs944765107 |
180 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA410664496 rs1399782640 |
181 | R>K | No |
ClinGen gnomAD |
|
|
rs1270189040 CA410665222 |
182 | R>G | No |
ClinGen TOPMed |
|
|
rs761467311 CA10101122 |
182 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1211923509 CA410665232 |
183 | D>G | No |
ClinGen gnomAD |
|
|
rs760225957 CA10101125 |
184 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10101124 rs772959198 |
184 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10101123 rs766934025 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322053103 rs764941393 |
187 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367976893 CA410665268 |
188 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566899785 CA10101128 |
189 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101129 RCV001337896 rs566899785 |
189 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs566899785 CA10101130 |
189 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416525669 CA410665275 |
190 | Q>* | No |
ClinGen gnomAD |
|
|
rs1408081227 CA410665278 |
190 | Q>R | No |
ClinGen TOPMed |
|
|
rs753193801 CA10101131 |
191 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322053162 rs993584184 |
191 | Y>H | No |
ClinGen TOPMed |
|
|
rs777689461 CA410665311 |
194 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410665308 rs1433169431 |
194 | H>R | No |
ClinGen gnomAD |
|
|
rs1351240395 CA410665312 |
195 | G>R | No |
ClinGen gnomAD |
|
|
CA322053213 rs906543038 |
197 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410665356 rs1453003336 |
200 | M>I | No |
ClinGen gnomAD |
|
|
CA10101156 rs754860216 |
200 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101157 rs754860216 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747929483 CA10101158 |
201 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10101159 rs771937862 |
202 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1264587773 CA410665369 |
202 | M>T | No |
ClinGen TOPMed |
|
|
rs777704080 CA10101160 |
204 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10101162 rs770420730 |
206 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA322054088 rs928288611 |
209 | L>V | No |
ClinGen Ensembl |
|
|
CA410665423 rs1568923264 |
210 | S>C | No |
ClinGen Ensembl |
|
|
CA410665438 rs1485949429 |
212 | D>G | No |
ClinGen TOPMed |
|
|
rs369750497 CA322054098 |
216 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs759163689 CA10101164 |
216 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101165 rs759163689 |
216 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410665474 rs1438454581 |
218 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1258254558 CA410665595 |
220 | A>P | No |
ClinGen TOPMed |
|
|
CA10101190 rs760773132 |
221 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10101191 rs766725460 |
222 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1412576555 CA410665606 |
222 | V>I | No |
ClinGen gnomAD |
|
|
CA410665616 rs1156535240 |
223 | G>V | No |
ClinGen gnomAD |
|
|
rs1311866731 CA410665656 |
229 | V>A | No |
ClinGen gnomAD |
|
|
CA410665690 rs1353046820 |
234 | T>A | No |
ClinGen gnomAD |
|
|
CA410665998 rs1304020143 |
235 | Q>H | No |
ClinGen gnomAD |
|
|
CA410666003 rs1354249581 |
236 | M>T | No |
ClinGen gnomAD |
|
|
rs776763514 CA10101211 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA322059549 rs9606040 |
240 | T>I | No |
ClinGen Ensembl |
|
|
CA410666035 rs1344519182 |
241 | D>N | No |
ClinGen gnomAD |
|
|
CA410666040 rs1344078105 |
241 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762393622 CA10101213 |
242 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs200318029 CA10101215 |
242 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs765334346 CA10101214 |
242 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410666052 rs1479680835 |
243 | G>A | No |
ClinGen gnomAD |
|
|
rs1014233481 CA322059584 |
246 | Q>* | No |
ClinGen Ensembl |
|
|
rs1191646391 CA410666069 |
246 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 246 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767498757 CA10101217 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10101218 rs750355811 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779593928 CA322059636 |
249 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779593928 CA10101220 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372046126 CA410666088 |
250 | S>P | No |
ClinGen gnomAD |
|
|
CA10101221 rs748698352 |
251 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101222 rs372832702 RCV001347843 |
251 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA410666102 rs1392001463 |
252 | H>R | No |
ClinGen gnomAD |
|
|
CA410666109 rs778364933 |
253 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA10101223 rs778364933 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs541752640 CA410666122 |
255 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541752640 CA10101224 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA410666121 rs1324368416 |
255 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10101226 rs142384320 |
257 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1027919998 CA322059669 |
258 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1413164635 CA410666149 |
259 | E>A | No |
ClinGen TOPMed |
|
|
rs1163193931 CA410666146 |
259 | E>K | No |
ClinGen gnomAD |
|
|
rs151279621 CA410666186 |
264 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10101231 rs551487753 |
265 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10101232 rs770066461 |
266 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1466067668 CA410666208 |
268 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs141618921 CA10101234 |
269 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775674265 CA10101233 |
269 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10101239 rs753395424 |
274 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101261 rs777498222 |
277 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322061525 rs777498222 |
277 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145642842 CA10101263 |
277 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101262 rs145642842 |
277 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101265 rs746329234 |
281 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA410666309 rs1601971244 |
282 | Q>R | No |
ClinGen Ensembl |
|
|
CA410666318 rs1208026486 |
283 | H>Q | No |
ClinGen gnomAD |
|
|
rs756267017 CA10101266 |
284 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA410666328 rs1385489417 |
285 | S>T | No |
ClinGen TOPMed |
|
|
rs942296677 CA410666351 |
288 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs942296677 CA322061552 |
288 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10101268 rs749326542 |
289 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10101269 rs768871203 |
291 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA410666415 rs1174528775 |
294 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410666417 rs1174528775 |
294 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1375008434 CA410666438 |
296 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746882214 CA10101271 |
297 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10101272 rs146559223 |
298 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410666468 rs1249245314 |
299 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410666464 rs1297516505 |
299 | R>T | No |
ClinGen gnomAD |
|
|
rs759373777 CA10101274 |
301 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410666494 rs1254878549 |
302 | L>M | No |
ClinGen Ensembl |
|
|
CA410666509 rs1182845874 |
303 | W>L | No |
ClinGen TOPMed |
|
|
rs1568931035 CA410666526 |
305 | V>L | No |
ClinGen Ensembl |
|
|
rs765222883 CA10101275 |
306 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410666544 rs1303708436 |
306 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA410666540 rs765222883 |
306 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322061606 rs1037930000 |
308 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762492558 CA10101277 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101276 rs144918738 |
310 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601971609 CA410666627 |
314 | F>V | No |
ClinGen Ensembl |
|
|
CA410666638 rs1437880545 |
315 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1437880545 CA410666637 |
315 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA322061617 rs538005805 |
316 | A>S | No |
ClinGen TOPMed |
|
|
rs538005805 CA410666645 |
316 | A>T | No |
ClinGen TOPMed |
|
|
CA410666670 rs1231628219 |
318 | M>V | No |
ClinGen gnomAD |
|
|
rs763894654 CA10101278 |
319 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774101130 CA410666981 |
322 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA410667003 rs1165533647 |
324 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10101299 rs369799540 |
325 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761394566 CA10101298 |
325 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410667073 rs756413581 |
330 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101301 rs756413581 |
330 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410667076 rs1429579611 |
330 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755093106 CA10101304 |
332 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754341277 CA10101303 |
332 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1235094609 CA410667096 |
332 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10101305 rs778839372 |
334 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs762283906 | 335 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10101307 rs752759929 |
335 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198413149 RCV001322362 |
340 | L>F | No |
ClinVar dbSNP |
|
|
rs367893525 CA10101309 |
341 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1191261381 CA410667208 |
342 | E>G | No |
ClinGen gnomAD |
|
|
CA10101310 rs745709547 |
343 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10101311 rs143527063 |
345 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410667259 rs1188606092 |
346 | E>G | No |
ClinGen gnomAD |
|
|
CA10101312 rs780209184 |
351 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10101313 rs749226527 |
352 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373976367 CA322061922 |
352 | G>R | No |
ClinGen gnomAD |
|
|
rs749226527 CA410667327 |
352 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348938460 CA410667381 |
353 | M>L | No |
ClinGen gnomAD |
|
|
CA410667384 rs1233833238 |
353 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA322062530 rs17209274 VAR_053026 |
356 | M>R | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs17209274 CA410667425 |
356 | M>T | No |
ClinGen gnomAD |
|
|
rs776018185 CA10101329 |
357 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369554602 CA10101330 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs776018185 CA410667433 |
357 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778860251 CA10101333 |
358 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410667449 rs572933667 CA322062539 |
358 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10101332 rs572933667 |
358 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA322062556 rs769077151 |
360 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10101335 rs148464781 |
361 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10101336 rs772912757 |
362 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs9618591 CA322062563 |
362 | S>N | No |
ClinGen Ensembl |
|
|
rs1247135258 CA410667497 |
363 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 365 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776980242 CA10101340 |
367 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10101339 rs770509042 |
367 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396328967 CA410667546 |
367 | F>Y | No |
ClinGen gnomAD |
|
|
CA322062585 rs7511038 |
369 | H>R | No |
ClinGen Ensembl |
|
|
rs759848589 CA10101341 |
370 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201658114 CA10101343 |
373 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA322062630 rs550709151 |
374 | S>T | No |
ClinGen Ensembl |
|
|
CA10101346 rs13447263 VAR_019287 |
376 | V>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1251830851 CA410667655 |
377 | V>L | No |
ClinGen gnomAD |
|
|
rs1369590594 CA410667694 |
380 | T>I | No |
ClinGen TOPMed |
|
|
rs544514688 CA410667703 |
381 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544514688 CA10101347 |
381 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1196672136 CA410667716 |
382 | S>F | No |
ClinGen gnomAD |
|
|
rs1038223192 CA410667720 |
383 | L>V | No |
ClinGen gnomAD |
|
|
CA410667761 rs375401941 |
386 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101348 rs375401941 |
386 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101349 rs753707740 |
387 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10101350 rs754778865 |
388 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101351 rs147166441 |
389 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879162463 CA322062667 |
389 | K>R | No |
ClinGen Ensembl |
|
|
rs375774132 CA410667795 |
390 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101352 rs375774132 |
390 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757901851 CA10101353 |
393 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395704923 CA410667843 |
394 | T>I | No |
ClinGen gnomAD |
|
|
CA10101354 rs777276275 |
396 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746445531 CA10101355 |
398 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs770596916 CA10101356 |
399 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10101357 rs776247390 |
402 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10101358 rs746261836 |
403 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA322066951 rs908109867 |
407 | S>N | No |
ClinGen gnomAD |
|
|
rs1601989650 CA410668414 |
408 | N>T | No |
ClinGen Ensembl |
|
|
CA410668453 rs1240334883 |
413 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 413 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601989683 CA410668449 |
413 | Y>S | No |
ClinGen Ensembl |
|
|
rs1194374805 CA410668458 |
414 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 415 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185103812 CA10101385 |
416 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764063091 CA10101388 |
417 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410668486 rs750837444 |
419 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA322066976 rs750837444 |
419 | A>T | No |
ClinGen gnomAD |
|
|
CA410668502 rs756821468 |
421 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1224070853 CA410668500 |
421 | K>Q | No |
ClinGen gnomAD |
|
|
rs756821468 CA10101390 |
421 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA322066979 rs995102102 |
424 | R>* | No |
ClinGen TOPMed |
|
|
rs780695620 CA322067002 |
424 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10101391 rs780695620 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410668525 rs1568936304 |
425 | A>V | No |
ClinGen Ensembl |
|
|
CA410668550 rs1346494506 |
429 | T>A | No |
ClinGen gnomAD |
|
|
CA10101393 rs755822745 |
432 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1568936335 CA410668583 |
434 | L>V | No |
ClinGen Ensembl |
|
|
CA10101395 rs749711414 |
438 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10101397 rs779628368 |
439 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10101396 rs769109886 |
439 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174472527 CA410668620 |
440 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10101398 rs748649876 |
442 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410668649 rs886442831 |
444 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886442831 CA322067088 |
444 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10101400 rs773343773 |
446 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10101403 rs140322380 |
449 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410668681 rs140322380 |
449 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370015066 CA10101402 |
449 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346522914 CA410668703 |
452 | E>D | No |
ClinGen gnomAD |
|
|
CA10101423 rs148062883 |
453 | G>S | Meier-gorlin syndrome 1 (mgors1) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1218177873 CA410668723 |
454 | T>A | No |
ClinGen gnomAD |
|
|
CA410668742 rs1410138438 |
457 | V>I | No |
ClinGen gnomAD |
|
|
RCV001308009 rs1933702399 |
458 | M>I | No |
ClinVar dbSNP |
|
|
rs761547116 CA10101424 |
458 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453295570 CA410668767 |
460 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 462 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410668830 rs1389709355 |
470 | S>R | No |
ClinGen gnomAD |
|
|
rs753340564 CA10101429 |
471 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268738119 CA410668840 |
472 | H>Y | No |
ClinGen TOPMed |
|
|
CA410668858 rs1408727200 |
475 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA410668870 rs1398778717 |
476 | S>F | No |
ClinGen gnomAD |
|
|
rs1293363078 CA410668879 |
478 | V>M | No |
ClinGen gnomAD |
|
|
rs1276872358 CA410668888 |
479 | C>Y | No |
ClinGen gnomAD |
|
|
CA10101431 rs764940993 |
480 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1568937772 CA410669278 |
482 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 482 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 482 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10101456 rs751887434 |
484 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322068448 rs371699135 |
484 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs757736626 CA10101457 |
485 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569721307 CA322068478 |
485 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756156022 CA10101460 |
490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756156022 CA322068498 |
490 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867671982 CA322068521 |
494 | A>V | No |
ClinGen Ensembl |
|
|
CA10101464 rs772885663 |
496 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410669374 rs1371821690 |
498 | S>N | No |
ClinGen gnomAD |
|
|
rs1428687749 CA410669400 |
501 | H>R | No |
ClinGen gnomAD |
|
|
rs139956849 CA10101465 |
502 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10101466 rs770793476 |
502 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10101468 rs12158840 |
506 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1601996363 CA410669435 |
507 | V>G | No |
ClinGen Ensembl |
|
|
CA10101470 rs775086429 |
507 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA410669447 rs1254420859 |
509 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410669452 rs1337073064 |
510 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763765990 CA10101472 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1428199596 | 511 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027303285 CA322068608 |
511 | P>S | No |
ClinGen gnomAD |
|
|
rs1027303285 CA410669453 |
511 | P>T | No |
ClinGen gnomAD |
|
|
CA410669471 rs1464019468 |
513 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1601996521 CA410669466 |
513 | T>P | No |
ClinGen Ensembl |
|
|
rs750927071 CA10101476 |
514 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA10101477 rs756243725 |
515 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568937979 CA410669488 |
516 | S>A | No |
ClinGen Ensembl |
|
|
CA10101478 rs780120444 |
516 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410669533 rs1369998690 |
521 | F>I | No |
ClinGen TOPMed |
|
|
CA410669534 rs1369998690 |
521 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423562877 CA410669546 |
522 | F>S | No |
ClinGen gnomAD |
|
|
CA410669562 rs1365700218 |
525 | A>T | No |
ClinGen gnomAD |
|
|
rs1420527128 CA410669567 |
525 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410669598 rs1398091592 |
530 | A>S | No |
ClinGen gnomAD |
|
|
rs371548501 CA322068852 |
530 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA410669611 rs1568938303 |
532 | S>R | No |
ClinGen Ensembl |
|
|
CA322068859 rs879094277 |
533 | T>I | No |
ClinGen Ensembl |
|
|
rs760979043 CA10101515 |
534 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310293688 CA410669634 |
535 | S>Y | No |
ClinGen gnomAD |
|
|
rs1284753021 CA410669639 |
536 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1240385072 CA410669638 |
536 | R>W | No |
ClinGen gnomAD |
|
|
CA10101517 rs200986651 |
540 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs995904651 CA322068877 |
541 | H>N | No |
ClinGen Ensembl |
|
|
CA410669674 rs1300375459 |
541 | H>R | No |
ClinGen gnomAD |
|
| rs1224162368 | 542 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144324956 CA10101519 |
542 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144324956 CA410669678 |
542 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10101520 rs752655188 |
543 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1253100010 CA410669695 |
544 | L>P | No |
ClinGen gnomAD |
|
|
CA410670031 rs766211638 |
546 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10101547 rs766211638 |
546 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs200408376 CA322072640 |
547 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410670040 rs1602002801 |
547 | I>T | No |
ClinGen Ensembl |
|
|
rs1402232849 CA410670049 |
548 | E>* | No |
ClinGen gnomAD |
|
|
CA10101549 rs754972008 |
552 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034546345 CA322072651 |
554 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1034546345 CA410670111 |
554 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA410670118 rs1412086629 |
555 | S>N | No |
ClinGen gnomAD |
|
|
CA10101551 rs747705775 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1252168557 CA410670129 |
557 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 559 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777465906 CA10101553 |
560 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237041271 CA410670167 |
561 | L>H | No |
ClinGen TOPMed |
|
|
CA410670163 rs1262558638 |
561 | L>V | No |
ClinGen TOPMed |
|
|
rs764384950 CA322072661 |
562 | I>F | No |
ClinGen gnomAD |
|
|
CA10101555 rs770429622 |
562 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA322072666 rs868327593 |
563 | S>F | No |
ClinGen Ensembl |
|
|
CA10101556 rs781646080 |
564 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773935991 CA322072671 |
566 | S>F | No |
ClinGen Ensembl |
1 associated diseases with O75419
[MIM: 617063]: Meier-Gorlin syndrome 7 (MGORS7)
A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive. {ECO:0000269|PubMed:27374770}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive. {ECO:0000269|PubMed:27374770}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O75419
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O75419 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| CMG complex | A protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| DNA replication preinitiation complex | A protein-DNA complex assembled at eukaryotic DNA replication origins immediately prior to the initiation of DNA replication. The preinitiation complex is formed by the assembly of additional proteins onto an existing prereplicative complex. In budding yeast, the additional proteins might include Cdc45p, Sld2p, Sld3p, Dpb11p, DNA polymerases, and others; in fission yeast the GINS complex is present. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA replication origin binding | Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication checkpoint signaling | A signal transduction process that contributes to a DNA replication checkpoint, that prevents the initiation of nuclear division until DNA replication is complete, thereby ensuring that progeny inherit a full complement of the genome. |
| DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| DNA unwinding involved in DNA replication | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication. |
| double-strand break repair via break-induced replication | The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome. |
| mitotic DNA replication preinitiation complex assembly | Any DNA replication preinitiation complex assembly that is involved in mitotic cell cycle. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Z1X9 | Cdc45 | Cell division control protein 45 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFVSDFRKEF | YEVVQSQRVL | LFVASDVDAL | CACKILQALF | QCDHVQYTLV | PVSGWQELET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFLEHKEQFH | YFILINCGAN | VDLLDILQPD | EDTIFFVCDT | HRPVNVVNVY | NDTQIKLLIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDDDLEVPAY | EDIFRDEEED | EEHSGNDSDG | SEPSEKRTRL | EEEIVEQTMR | RRQRREWEAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRDILFDYEQ | YEYHGTSSAM | VMFELAWMLS | KDLNDMLWWA | IVGLTDQWVQ | DKITQMKYVT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DVGVLQRHVS | RHNHRNEDEE | NTLSVDCTRI | SFEYDLRLVL | YQHWSLHDSL | CNTSYTAARF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLWSVHGQKR | LQEFLADMGL | PLKQVKQKFQ | AMDISLKENL | REMIEESANK | FGMKDMRVQT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSIHFGFKHK | FLASDVVFAT | MSLMESPEKD | GSGTDHFIQA | LDSLSRSNLD | KLYHGLELAK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KQLRATQQTI | ASCLCTNLVI | SQGPFLYCSL | MEGTPDVMLF | SRPASLSLLS | KHLLKSFVCS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TKNRRCKLLP | LVMAAPLSME | HGTVTVVGIP | PETDSSDRKN | FFGRAFEKAA | ESTSSRMLHN |
| 550 | 560 | ||||
| HFDLSVIELK | AEDRSKFLDA | LISLLS |