Q9Y3Z3
PR
Gene name |
SAMHD1 |
Protein name |
Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 |
Names |
dNTPase, Dendritic cell-derived IFNG-induced protein, DCIP, Monocyte protein 5, MOP-5, SAM domain and HD domain-containing protein 1, hSAMHD1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25939 |
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
69 structures for Q9Y3Z3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2E8O | NMR | - | A | 23-118 | PDB |
| 3U1N | X-ray | 310 A | A/B/C/D | 120-626 | PDB |
| 4BZB | X-ray | 183 A | A/B/C/D | 113-626 | PDB |
| 4BZC | X-ray | 288 A | A/B/C/D | 113-626 | PDB |
| 4CC9 | X-ray | 247 A | C | 582-626 | PDB |
| 4MZ7 | X-ray | 180 A | A/B | 109-626 | PDB |
| 4Q7H | X-ray | 259 A | A/B/C/D | 109-626 | PDB |
| 4QFX | X-ray | 220 A | A/B/C/D | 113-626 | PDB |
| 4QFY | X-ray | 210 A | A/B/C/D | 113-626 | PDB |
| 4QFZ | X-ray | 230 A | A/B/C/D | 113-626 | PDB |
| 4QG0 | X-ray | 230 A | A/B/C/D | 113-626 | PDB |
| 4QG1 | X-ray | 220 A | A/B/C/D | 113-626 | PDB |
| 4QG2 | X-ray | 225 A | A/B/C/D | 113-626 | PDB |
| 4QG4 | X-ray | 210 A | A/B/C/D | 113-626 | PDB |
| 4RXO | X-ray | 260 A | A/B/C/D | 109-626 | PDB |
| 4RXP | X-ray | 210 A | A/B | 109-626 | PDB |
| 4RXQ | X-ray | 210 A | A/B | 109-626 | PDB |
| 4RXR | X-ray | 212 A | A/B | 109-626 | PDB |
| 4RXS | X-ray | 220 A | A/B | 109-626 | PDB |
| 4TNP | X-ray | 200 A | A/B/C/D | 113-626 | PDB |
| 4TNQ | X-ray | 255 A | A/B/C/D | 113-626 | PDB |
| 4TNR | X-ray | 275 A | A/B/C/D | 113-626 | PDB |
| 4TNX | X-ray | 231 A | A/B/C/D | 113-626 | PDB |
| 4TNY | X-ray | 260 A | A/B/C/D | 113-626 | PDB |
| 4TNZ | X-ray | 238 A | A/B/C/D | 113-626 | PDB |
| 4TO0 | X-ray | 230 A | A/B/C/D | 113-626 | PDB |
| 4TO1 | X-ray | 255 A | A/B/C/D | 113-626 | PDB |
| 4TO2 | X-ray | 227 A | A/B/C/D | 113-626 | PDB |
| 4TO3 | X-ray | 220 A | A/B/C/D | 113-626 | PDB |
| 4TO4 | X-ray | 210 A | A/B/C/D | 113-626 | PDB |
| 4TO5 | X-ray | 280 A | A/B/C/D | 113-626 | PDB |
| 4TO6 | X-ray | 233 A | A/B/C/D | 113-626 | PDB |
| 4ZWE | X-ray | 281 A | A/B/C/D | 113-626 | PDB |
| 4ZWG | X-ray | 230 A | A/B/C/D | 113-626 | PDB |
| 5AO0 | X-ray | 373 A | A/B | 41-583 | PDB |
| 5AO1 | X-ray | 254 A | A/B/C/D | 115-583 | PDB |
| 5AO2 | X-ray | 297 A | A/B/C/D | 115-583 | PDB |
| 5AO3 | X-ray | 300 A | A/B/C/D | 115-626 | PDB |
| 5AO4 | X-ray | 370 A | A/B/C/D | 115-626 | PDB |
| 6CM2 | X-ray | 214 A | A/B/C/D | 113-626 | PDB |
| 6DW3 | X-ray | 220 A | A/B/C/D | 113-626 | PDB |
| 6DW4 | X-ray | 199 A | A/B/C/D | 113-626 | PDB |
| 6DW5 | X-ray | 193 A | A/B/C/D | 113-626 | PDB |
| 6DW7 | X-ray | 250 A | A/B/C/D | 113-626 | PDB |
| 6DWD | X-ray | 170 A | A/B/C/D | 113-626 | PDB |
| 6DWJ | X-ray | 250 A | A/B/C/D | 113-626 | PDB |
| 6DWK | X-ray | 230 A | A/B/C/D | 113-626 | PDB |
| 6TX0 | X-ray | 201 A | A/B | 109-626 | PDB |
| 6TXA | X-ray | 285 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 109-626 | PDB |
| 6TXC | X-ray | 284 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 109-626 | PDB |
| 6TXE | X-ray | 319 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 109-626 | PDB |
| 6TXF | X-ray | 225 A | A/B | 109-626 | PDB |
| 6U6X | X-ray | 258 A | A/B/C/D | 114-626 | PDB |
| 6U6Y | X-ray | 247 A | A/B/C/D | 114-626 | PDB |
| 6U6Z | X-ray | 210 A | A/B/C/D | 116-626 | PDB |
| 6XU1 | X-ray | 220 A | A/B/C/D/E/F/G/H | 109-626 | PDB |
| 6YOM | X-ray | 325 A | A/B | 109-626 | PDB |
| 7A5Y | X-ray | 229 A | A/B/C/D/E/F/G/H | 109-626 | PDB |
| 7LTT | X-ray | 190 A | A/B/C/D | 113-626 | PDB |
| 7LU5 | X-ray | 357 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 113-626 | PDB |
| 7S2Y | X-ray | 280 A | A/B/C/D | 113-626 | PDB |
| 7UJN | EM | 289 A | A/B/C/D | 1-626 | PDB |
| 8D94 | X-ray | 244 A | A/B/C/D | 1-626 | PDB |
| 8D9J | X-ray | 282 A | A/B/C/D | 1-626 | PDB |
| 8GB1 | X-ray | 246 A | A/B/C/D | 113-626 | PDB |
| 8GB2 | X-ray | 307 A | A/B/C/D | 113-626 | PDB |
| 8TDV | EM | 344 A | A/B/E/F | 1-626 | PDB |
| 8TDW | EM | 304 A | A/B/E/F | 1-626 | PDB |
| AF-Q9Y3Z3-F1 | Predicted | AlphaFoldDB |
472 variants for Q9Y3Z3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000809083 RCV003117599 rs923362391 |
1 | M>K | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758547160 RCV001833794 RCV001204003 |
2 | Q>missing | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs551472065 RCV001036106 RCV002552458 CA9844857 RCV001275560 |
3 | R>L | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
rs755673943 RCV001231350 RCV001834005 |
4 | A>V | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765628260 COSM1751433 CA9844850 RCV001237582 |
7 | E>K | urinary_tract Aicardi-Goutieres syndrome 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA408833682 RCV001325221 RCV001830369 rs1235922763 |
15 | C>G | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1442728513 RCV001064679 |
23 | S>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10643826 rs886056649 RCV000276782 RCV000371129 |
23 | S>T | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000407215 RCV000712997 RCV001273109 CA9844839 rs147240777 RCV001086867 |
26 | P>L | Aicardi Goutieres syndrome Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210637 CA408832420 rs1451769476 |
29 | E>D | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2063734469 RCV001035257 |
41 | D>Y | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2063734360 RCV001254922 |
44 | T>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2063734182 RCV001245426 |
53 | F>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9844793 rs141599277 RCV001830029 RCV001248068 COSM1615548 |
76 | A>S | Aicardi Goutieres syndrome liver Aicardi-Goutieres syndrome 5 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2063689102 RCV001039742 |
83 | E>D | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831171 rs1274894909 RCV001351589 CA408830508 |
85 | R>H | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA408830449 rs1600394490 RCV000984113 |
87 | E>Q | Multiple myeloma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220375 RCV001828752 CA9844770 rs758586131 |
97 | R>K | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9844764 rs144353824 RCV000344761 RCV000887838 |
112 | V>I | Chilblain lupus 2 (chbl2) Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000114351 rs515726144 |
120 | D>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078239 | 120 | D>del | AGS5 [UniProt] | Yes | UniProt |
|
rs757367080 RCV001273105 RCV000702055 CA9844748 |
122 | I>V | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000004287 CA340151 rs121434520 VAR_058481 |
123 | H>P | Aicardi-Goutieres syndrome 5 AGS5; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA408823241 RCV000799060 rs752442185 |
134 | R>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001055274 CA9844744 rs752442185 RCV001827352 |
134 | R>G | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767413799 RCV000285230 RCV000379642 CA9844743 |
134 | R>Q | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA342741 RCV000023577 rs387906948 VAR_058482 |
143 | R>C | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 AGS5; loss of oligomerization [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000114352 VAR_058483 RCV002223787 rs369035155 CA345521 |
143 | R>H | Aicardi-Goutieres syndrome 5 AGS5; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000004282 rs121434517 RCV001826413 CA340142 RCV002476923 |
145 | R>* | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000114353 rs515726145 COSM186223 CA345523 VAR_058484 |
145 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Aicardi-Goutieres syndrome 5 AGS5; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000004285 rs121434518 CA340145 |
149 | Q>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001836234 CA9844736 rs775844501 RCV001245160 |
152 | G>R | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA408822971 rs1306109528 RCV000518942 RCV001834699 RCV001857994 |
155 | Y>C | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000004284 rs267607027 CA252975 RCV001831512 |
164 | R>* | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765879627 RCV000514399 RCV001834651 CA9844734 |
165 | F>S | Aicardi Goutieres syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791724 rs1601144527 |
166 | E>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070633 | 167 | H>Y | AGS5; loss of function in defense response to virus; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [UniProt] | Yes | UniProt |
|
rs2063564236 RCV001042558 |
171 | V>L | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408822373 rs1555835829 RCV000623639 |
173 | Y>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810117 rs1455837248 CA408822272 RCV001825618 |
181 | A>T | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA9844706 RCV001827304 rs781223072 RCV001047924 |
188 | E>Q | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA408822133 rs1303667371 RCV000723336 |
191 | I>V | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1300333132 CA408822101 COSM1026449 RCV001067942 |
194 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium Aicardi-Goutieres syndrome 5 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000023579 CA249482 RCV000825545 RCV001555533 VAR_058485 rs138603088 RCV000023578 |
201 | I>N | Aicardi Goutieres syndrome Chilblain lupus 2 (chbl2) Chilblain lupus 2 Aicardi-Goutieres syndrome 5 AGS5 and CHBL2; loss of function in defense response to virus; decreased oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811024 rs1053324143 RCV001825622 CA314264688 |
204 | L>F | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs121434516 CA340140 RCV000004281 VAR_058486 |
209 | G>S | Aicardi-Goutieres syndrome 5 AGS5; does not affect oligomerization; decreased ability to restrict LINE-1 retrotransposon activity; does not affect localization to nucleus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs768019897 RCV000985137 RCV001092537 |
216 | M>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs515726146 RCV000114354 |
217 | F>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408821585 rs1335417539 RCV002478901 RCV000816561 |
220 | R>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1601138159 RCV000807548 CA408821541 |
223 | P>L | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753391551 RCV001835488 CA9844680 RCV001305928 |
227 | P>L | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1219206348 RCV000791952 CA408846671 |
234 | E>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804997 rs757614478 CA9844653 |
243 | H>P | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9844652 rs754150741 RCV000797969 RCV001825566 |
245 | I>V | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121434521 CA340153 VAR_058487 RCV000004288 |
254 | M>V | Aicardi-Goutieres syndrome 5 AGS5; loss of function in defense response to virus; does not affect oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2063492690 RCV001204971 |
274 | G>E | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272065 RCV000792430 rs202019609 CA9844643 |
277 | E>D | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs559553527 CA9844630 VAR_070634 |
290 | R>H | Variant assessed as Somatic; 0.0 impact. AGS5; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774197667 RCV001321144 |
297 | L>V | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827364 CA408845599 RCV001058250 rs1300702859 |
301 | V>L | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001042421 rs2063480012 |
313 | W>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770005027 CA9844611 RCV001330674 COSM1026446 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Aicardi-Goutieres syndrome 5 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs755046462 RCV001828970 RCV001241153 CA9844610 |
333 | R>H | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs962672070 RCV001138748 RCV001138747 CA314296931 |
339 | R>C | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2063478568 RCV001213659 |
340 | V>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA408844796 RCV001348451 rs1232169509 |
345 | N>D | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000332671 RCV000277658 CA10643818 rs886056648 |
346 | E>A | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM186218 CA9844603 RCV000788588 RCV001835958 rs761561066 RCV001238995 |
348 | R>C | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. large_intestine Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9844587 RCV001275558 rs546930607 RCV001048091 |
361 | D>N | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001048787 rs2063446998 |
365 | T>N | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316676 RCV001830302 rs138089277 |
366 | R>C | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217916 rs2063446897 |
369 | L>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114345 rs515726139 VAR_058488 CA345508 |
369 | L>S | Aicardi-Goutieres syndrome 5 AGS5; loss of function in defense response to virus; decreased oligomerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000114346 rs515726140 CA345510 VAR_058489 |
385 | M>V | Aicardi-Goutieres syndrome 5 AGS5; loss of function in defense response to virus; loss of oligomerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1338752164 RCV000820901 CA408843646 RCV001830804 |
392 | K>E | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001828847 rs776994886 RCV001231507 CA9844556 |
408 | R>C | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA408843309 rs1233436073 RCV001057335 |
420 | T>S | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754153159 RCV000706615 CA9844550 |
420 | T>S | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA408842487 RCV000677342 rs1356154563 |
431 | L>F | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1311797673 CA408842369 RCV001830512 RCV000692955 |
441 | A>P | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001781440 rs369587937 CA345512 RCV000114347 |
442 | R>* | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775762131 RCV001833718 RCV001138329 RCV001138330 CA9844532 |
442 | R>Q | Aicardi Goutieres syndrome Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001242221 VAR_078240 rs774964432 CA314287096 RCV000657877 |
448 | I>T | Aicardi-Goutieres syndrome 5 AGS5; loss of function in defense response to virus; decreased oligomerization; does not affect localization to nucleus; novel localization to the cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001051042 CA408842232 rs769561543 |
456 | Y>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA408842164 RCV001825959 RCV001350103 rs1215408383 |
462 | P>T | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9844520 rs142393072 RCV000367375 RCV001272063 RCV000646781 |
465 | Q>K | Aicardi Goutieres syndrome Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705432 rs1568762986 |
470 | R>missing | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1451618642 RCV001143072 CA408841345 RCV001143073 |
482 | S>G | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs373079404 RCV001143071 RCV000706733 CA9844501 RCV000765489 RCV001830566 |
482 | S>N | Aicardi Goutieres syndrome Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000820612 RCV001830803 rs886645360 CA408841261 |
485 | P>S | Aicardi Goutieres syndrome Variant assessed as Somatic; impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA9844498 rs529220118 RCV001835340 RCV001248607 |
491 | V>M | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002495159 RCV000816971 RCV001830789 rs768409471 |
492 | K>missing | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220647 rs2063392360 |
495 | A>P | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1990240962 RCV001302854 |
504 | N>T | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs999709360 RCV001071833 CA314281827 |
512 | K>N | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
rs1354357820 RCV000700031 CA408840094 RCV001830542 |
530 | I>M | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9844464 CA408840085 RCV000366296 RCV000997772 rs145735112 RCV001272062 RCV000646782 RCV002520012 |
531 | R>S | Aicardi Goutieres syndrome Chilblain lupus 2 Aicardi-Goutieres syndrome 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000004286 rs121434519 CA340148 |
548 | Q>* | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_080530 | 548 | Q>del | AGS5; Does not affect dNTP regulation, while affecting ability to promote DNA end resection at stalled replication forks [UniProt] | Yes | UniProt |
|
CA314281281 rs149846637 RCV002509198 RCV001389675 |
551 | R>* | Aicardi Goutieres syndrome Variant assessed as Somatic; impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA dbSNP |
|
rs1442543580 RCV000521378 CA408839513 RCV002525193 |
553 | Y>D | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001217951 rs1252711773 |
558 | D>E | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779491090 RCV001835589 CA9844439 RCV001318266 |
565 | A>T | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1990225699 RCV001043852 |
571 | Q>K | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1448113794 RCV001279952 |
575 | D>E | Aicardi Goutieres syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345737 rs1990225210 |
575 | D>N | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10652499 RCV000301836 RCV000361282 rs886056647 |
579 | T>A | Chilblain lupus 2 Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9844414 RCV001275557 rs202165710 RCV000817996 |
585 | D>N | Aicardi Goutieres syndrome Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs761596589 RCV002265930 RCV001037649 CA9844407 |
600 | D>N | Aicardi-Goutieres syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000301389 RCV002518123 RCV001247517 RCV001833405 CA9844403 rs150713148 |
611 | R>Q | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1174070609 CA408833936 |
2 | Q>R | No |
ClinGen TOPMed |
|
|
rs755673943 CA9844855 |
4 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs752220797 CA9844854 |
5 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs780617865 CA9844853 |
6 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408833867 rs1187125859 |
6 | S>T | No |
ClinGen gnomAD |
|
|
rs149797357 CA9844849 |
8 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1307664254 CA408833771 |
9 | P>S | No |
ClinGen TOPMed |
|
|
RCV000415962 rs1057519178 |
10 | S>missing | No |
ClinVar dbSNP |
|
|
rs1346349736 CA408833738 |
11 | K>* | No |
ClinGen TOPMed |
|
|
rs57885014 CA314276885 |
12 | R>S | No |
ClinGen Ensembl |
|
|
CA9844848 rs754098987 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA314276882 rs759470329 |
14 | R>C | No |
ClinGen Ensembl |
|
|
CA9844847 rs200703816 |
16 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273422629 CA408833630 |
18 | S>R | No |
ClinGen TOPMed |
|
|
CA408833622 rs1308458054 |
19 | P>R | No |
ClinGen gnomAD |
|
|
rs760912458 CA9844846 |
21 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9844844 rs772335453 |
22 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408832599 rs772335453 |
22 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139804668 CA9844843 |
23 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9844842 rs774388693 |
24 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA408832523 rs1457647268 |
25 | T>A | No |
ClinGen gnomAD |
|
|
rs1457647268 CA408832525 |
25 | T>P | No |
ClinGen gnomAD |
|
|
rs747865444 CA314276804 |
28 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747865444 CA9844837 |
28 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408832434 rs1194489910 |
29 | E>* | No |
ClinGen gnomAD |
|
|
CA408832417 rs1470044227 |
30 | A>T | No |
ClinGen gnomAD |
|
|
CA408832373 rs1465712650 |
32 | W>R | No |
ClinGen gnomAD |
|
|
rs79574692 CA314276777 |
33 | S>A | No |
ClinGen Ensembl |
|
|
CA314276776 rs77851709 |
33 | S>Y | No |
ClinGen gnomAD |
|
|
CA314276761 rs79926640 |
34 | P>A | No |
ClinGen gnomAD |
|
|
CA408832351 rs79926640 |
34 | P>S | No |
ClinGen gnomAD |
|
|
rs751026561 CA408832344 |
35 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844833 rs751026561 |
35 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1684124082 RCV001293275 |
37 | E>* | No |
ClinVar dbSNP |
|
|
CA9844832 rs779493555 |
37 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA408832274 rs1386913237 |
43 | K>N | No |
ClinGen gnomAD |
|
|
rs1287025068 CA408832264 |
44 | T>I | No |
ClinGen gnomAD |
|
|
CA408832224 rs764432841 |
47 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844829 rs764432841 |
47 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145360072 CA9844827 |
48 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408832160 rs1193287869 |
50 | V>E | No |
ClinGen gnomAD |
|
|
CA9844825 rs759723057 |
50 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9844823 rs147891080 |
56 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9844821 rs773200359 |
57 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408831994 rs1568788278 |
58 | G>D | No |
ClinGen Ensembl |
|
|
rs1300450432 CA408831955 |
60 | E>K | No |
ClinGen TOPMed |
|
|
CA9844819 rs747918559 |
61 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9844818 rs776294378 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768245328 CA9844817 |
63 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA408831891 rs1302194840 |
63 | V>M | No |
ClinGen gnomAD |
|
|
CA408830775 rs1330743018 |
74 | T>K | No |
ClinGen gnomAD |
|
|
CA9844792 rs141599277 COSM1565801 |
76 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1256111326 CA408830748 |
77 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766604213 CA9844789 |
82 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9844790 rs751790128 |
82 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766604213 CA408830598 |
82 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs758450452 CA9844788 |
84 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9844786 rs765170388 |
85 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844787 rs765170388 |
85 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761667582 CA9844785 |
92 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334090428 CA408830152 |
92 | S>N | No |
ClinGen gnomAD |
|
|
rs747371346 CA9844772 |
93 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1277922979 CA408827821 |
95 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1372014614 CA408827780 |
97 | R>G | No |
ClinGen gnomAD |
|
|
rs1308693389 CA408827742 |
97 | R>S | No |
ClinGen TOPMed |
|
|
CA408827774 rs758586131 |
97 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439121967 CA408827693 |
98 | K>R | No |
ClinGen gnomAD |
|
|
rs1420168078 CA408827575 |
101 | L>I | No |
ClinGen gnomAD |
|
|
rs1252974406 CA408827383 |
105 | Q>H | No |
ClinGen gnomAD |
|
|
CA9844768 rs779028596 |
106 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs753821325 CA9844766 |
106 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844767 rs753821325 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA314270206 rs930531186 |
107 | L>M | No |
ClinGen Ensembl |
|
|
CA408827035 rs1242544158 |
115 | M>L | No |
ClinGen gnomAD |
|
|
rs752489862 CA9844762 |
116 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1188635417 CA408823401 |
121 | P>L | No |
ClinGen gnomAD |
|
|
rs1241476824 CA408823403 |
121 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753872410 CA9844747 |
127 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9844746 rs777593201 |
127 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1064797283 RCV000488134 CA16621789 |
129 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA408823251 rs1371480402 |
133 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM1411563 CA408823252 rs1371480402 |
133 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9844742 rs759395195 |
136 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408823202 rs1446757285 |
137 | D>G | No |
ClinGen gnomAD |
|
|
CA9844741 rs751309717 |
137 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs762586258 CA9844739 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766101778 CA9844740 |
139 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400380009 CA408823173 |
140 | Q>E | No |
ClinGen gnomAD |
|
|
CA9844738 rs772717044 |
142 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs515726145 RCV001092538 |
145 | R>P | No |
ClinVar dbSNP |
|
|
rs1160346828 CA408823068 |
148 | K>* | No |
ClinGen gnomAD |
|
|
CA9844737 rs761306482 |
148 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408823018 rs775844501 |
152 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA408822968 rs1257890707 |
155 | Y>* | No |
ClinGen gnomAD |
|
|
CA314266862 rs753484251 |
158 | P>S | No |
ClinGen Ensembl |
|
|
CA408822895 rs1234364779 |
160 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408822877 rs1361407902 |
161 | S>L | No |
ClinGen Ensembl |
|
|
CA408822823 rs1290849663 |
164 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408822821 rs1290849663 |
164 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765879627 CA408822813 |
165 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373478336 CA408822726 |
170 | G>R | No |
ClinGen gnomAD |
|
|
rs773235300 CA314264726 |
175 | A>G | No |
ClinGen Ensembl |
|
|
CA408822294 rs1601141141 |
179 | V>A | No |
ClinGen Ensembl |
|
|
CA9844709 rs773294169 |
180 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408822258 rs1384695127 |
182 | L>V | No |
ClinGen TOPMed |
|
|
rs1312230330 CA408822242 |
183 | G>A | No |
ClinGen TOPMed |
|
|
rs1486488234 CA408822183 |
187 | P>R | No |
ClinGen gnomAD |
|
|
CA408822135 rs1303667371 |
191 | I>L | No |
ClinGen gnomAD |
|
|
CA408822114 rs1236120118 |
192 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs754917229 CA9844705 COSM1026450 |
193 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746801947 COSM1713427 CA9844704 |
194 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA408822074 rs1265597702 |
198 | C>S | No |
ClinGen TOPMed |
|
|
rs780059695 CA9844703 |
200 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs758250759 CA9844702 |
200 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408822044 rs1568776699 |
202 | A>V | No |
ClinGen Ensembl |
|
|
CA408821995 rs1205199383 |
206 | H>P | No |
ClinGen gnomAD |
|
|
CA9844687 rs759491812 |
211 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408821694 rs1382786005 |
212 | P>L | No |
ClinGen gnomAD |
|
|
CA314262854 rs372506100 |
212 | P>T | No |
ClinGen ESP |
|
|
CA9844686 rs780115494 |
214 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9844685 rs772029258 |
215 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408821656 rs772029258 |
215 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200848943 CA314262851 |
216 | M>I | No |
ClinGen 1000Genomes |
|
|
CA408821638 rs1468886280 |
216 | M>T | No |
ClinGen Ensembl |
|
|
COSM342957 rs745608353 CA408821580 |
220 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9844683 rs745608353 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408821543 rs1235181942 |
223 | P>S | No |
ClinGen gnomAD |
|
|
rs778647626 CA9844682 |
226 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA408821509 rs778647626 |
226 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9844681 COSM186221 rs369489315 |
226 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs369489315 CA314262837 |
226 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9844677 rs755607745 |
229 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA314262829 rs979130608 |
230 | K>Q | No |
ClinGen Ensembl |
|
|
rs752112108 CA9844676 |
231 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs766842258 CA9844675 COSM1224635 |
232 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1219206348 CA408846675 |
234 | E>K | No |
ClinGen gnomAD |
|
|
rs750807433 CA408846659 |
235 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844655 rs750807433 |
235 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408846601 rs1205824136 |
240 | M>I | No |
ClinGen gnomAD |
|
|
rs1289173616 CA408846606 |
240 | M>K | No |
ClinGen gnomAD |
|
|
CA408846611 rs1398721413 |
240 | M>V | No |
ClinGen TOPMed |
|
|
rs765574680 CA9844654 |
241 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1157839973 CA408846582 |
242 | E>A | No |
ClinGen TOPMed |
|
|
rs1239766590 CA408846578 |
242 | E>D | No |
ClinGen gnomAD |
|
|
rs1276976455 CA408846569 |
243 | H>Q | No |
ClinGen gnomAD |
|
|
CA408846478 rs764368730 |
252 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1416886733 CA408846471 |
252 | P>L | No |
ClinGen TOPMed |
|
|
CA9844651 rs764368730 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9844649 rs775651203 |
256 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443109791 CA408846403 |
258 | G>D | No |
ClinGen TOPMed |
|
|
CA314298944 rs568179734 |
259 | L>V | No |
ClinGen Ensembl |
|
|
CA408846377 rs1189269489 |
260 | I>T | No |
ClinGen gnomAD |
|
|
rs866625584 CA314298926 |
262 | E>K | No |
ClinGen gnomAD |
|
|
rs1489303684 CA408846319 |
264 | D>N | No |
ClinGen gnomAD |
|
|
CA314298899 rs200905678 |
265 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1348886010 CA408846268 |
266 | C>F | No |
ClinGen gnomAD |
|
|
CA408846252 rs1272090736 |
267 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1239795387 CA408846236 |
269 | K>E | No |
ClinGen TOPMed |
|
|
rs1219504717 CA408846192 |
272 | I>T | No |
ClinGen gnomAD |
|
|
rs749053543 CA9844644 |
273 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA408846167 rs1217802439 |
275 | P>S | No |
ClinGen gnomAD |
|
|
rs376138886 CA9844642 |
279 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747675634 CA9844641 |
281 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756338119 CA9844632 |
285 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs752962934 CA408845733 |
287 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs868763843 CA314297084 |
290 | R>C | No |
ClinGen Ensembl |
|
|
CA9844628 rs774197667 |
297 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs901586847 CA314297045 |
300 | I>T | No |
ClinGen Ensembl |
|
|
CA408845607 rs1380777298 |
300 | I>V | No |
ClinGen gnomAD |
|
|
rs1038759866 CA314297040 |
301 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408845590 rs1327694039 |
302 | S>T | No |
ClinGen TOPMed |
|
|
CA9844625 rs772935302 |
304 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1331337115 CA408845560 |
304 | K>N | No |
ClinGen TOPMed |
|
|
CA408845518 rs1463956149 |
308 | I>T | No |
ClinGen gnomAD |
|
|
rs1416134092 CA408845448 |
312 | K>N | No |
ClinGen gnomAD |
|
|
rs769445437 CA9844623 |
312 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408845436 rs1180266278 |
313 | W>* | No |
ClinGen gnomAD |
|
|
rs1459382184 CA408845105 |
327 | N>S | No |
ClinGen gnomAD |
|
|
CA408845089 rs1351629453 |
328 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9844609 rs751611358 |
338 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844608 rs201250022 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408844897 COSM577242 rs962672070 |
339 | R>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA408844879 rs1263113939 |
340 | V>D | No |
ClinGen gnomAD |
|
|
CA314296906 rs909860368 |
341 | C>Y | No |
ClinGen gnomAD |
|
|
rs750359968 CA9844606 |
342 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408844826 rs1375786065 |
343 | V>I | No |
ClinGen gnomAD |
|
|
CA408844805 rs1226357471 |
344 | D>G | No |
ClinGen TOPMed |
|
|
rs765062025 CA9844604 |
344 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408844785 rs1273114275 |
345 | N>S | No |
ClinGen gnomAD |
|
|
CA408844694 rs1358249926 |
352 | R>G | No |
ClinGen TOPMed |
|
|
CA408844668 rs1361318882 |
353 | D>E | No |
ClinGen gnomAD |
|
|
rs1220529719 CA408844655 |
354 | K>N | No |
ClinGen TOPMed |
|
|
rs1568767198 CA408844440 |
357 | G>R | No |
ClinGen Ensembl |
|
|
rs1360169823 CA408844390 |
360 | Y>C | No |
ClinGen gnomAD |
|
|
CA408844353 rs1467888530 |
362 | M>V | No |
ClinGen gnomAD |
|
|
CA9844586 rs750396747 |
363 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9844584 rs761616206 COSM577243 |
364 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA408844304 rs1478441405 |
365 | T>P | No |
ClinGen gnomAD |
|
|
CA9844583 rs138089277 |
366 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408844282 rs1190911691 COSM1411560 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9844582 rs150373735 |
370 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9844581 rs774991764 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774991764 CA9844580 |
371 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408844216 rs1482152853 |
371 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408844217 rs1482152853 |
371 | R>P | No |
ClinGen gnomAD |
|
|
rs777281710 CA314292706 |
374 | Y>D | No |
ClinGen Ensembl |
|
|
rs1227995853 CA408844160 |
375 | Q>R | No |
ClinGen gnomAD |
|
|
CA408844147 rs1425708619 |
376 | H>Y | No |
ClinGen Ensembl |
|
|
rs771757103 CA9844579 |
377 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759085618 CA9844578 |
378 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773888401 CA9844577 |
379 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770377403 CA9844576 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408844043 rs1329296186 |
381 | I>V | No |
ClinGen TOPMed |
|
|
CA9844575 rs748477467 |
385 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9844563 rs376972390 |
389 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338752164 CA408843645 |
392 | K>* | No |
ClinGen gnomAD |
|
|
CA9844562 rs752437969 |
397 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1332429542 CA408843579 |
397 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408843557 rs916801950 |
398 | E>A | No |
ClinGen TOPMed |
|
|
CA314291915 rs916801950 |
398 | E>G | No |
ClinGen TOPMed |
|
|
rs1379587506 CA408843545 |
399 | I>M | No |
ClinGen TOPMed |
|
|
rs767239521 CA9844561 |
400 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759140727 CA9844560 |
400 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765846187 CA408843524 |
401 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844558 rs765846187 |
401 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166656032 CA408843506 |
403 | G>R | No |
ClinGen gnomAD |
|
|
rs17853621 CA314291849 COSM1713426 |
404 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA408843458 rs776994886 |
408 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844555 rs140417977 |
408 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs140417977 CA408843456 |
408 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA408843444 rs1298983269 |
409 | I>S | No |
ClinGen TOPMed |
|
|
rs747292001 CA9844554 |
410 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444630318 CA408843396 |
413 | I>T | No |
ClinGen TOPMed |
|
|
CA408843376 rs1367501833 |
415 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs745950444 CA9844551 |
416 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844552 rs772221625 |
416 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs1312001484 CA408843327 |
419 | Y>H | No |
ClinGen TOPMed |
|
|
CA408843311 rs754153159 |
420 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177867586 CA408843297 |
422 | L>Q | No |
ClinGen gnomAD |
|
|
CA408843287 rs1212833020 |
424 | D>H | No |
ClinGen gnomAD |
|
|
CA9844538 rs765975586 |
425 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200535524 CA9844536 |
434 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408842370 COSM1195686 rs1311797673 |
441 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs775762131 CA408842362 |
442 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997685743 CA314287104 |
448 | I>V | No |
ClinGen TOPMed |
|
|
CA408842300 rs1601119601 |
451 | R>C | No |
ClinGen Ensembl |
|
|
rs928144229 CA314287083 RCV000997773 |
451 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA9844527 rs375221582 |
455 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777789946 CA9844526 |
456 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA408842212 rs1428627086 |
458 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773500104 CA314287050 |
459 | E>G | No |
ClinGen Ensembl |
|
|
rs1194519605 CA408842184 |
460 | T>M | No |
ClinGen gnomAD |
|
|
rs1568763042 CA408842191 |
460 | T>P | No |
ClinGen Ensembl |
|
|
rs1261278664 CA408842178 |
461 | Q>* | No |
ClinGen gnomAD |
|
|
rs371887302 CA9844523 |
463 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9844522 rs754810703 |
463 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751309562 CA9844521 |
464 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA408842110 rs1344281482 |
466 | I>M | No |
ClinGen gnomAD |
|
|
CA314287009 rs1043742167 |
466 | I>T | No |
ClinGen TOPMed |
|
|
CA314287016 rs973444339 |
466 | I>V | No |
ClinGen TOPMed |
|
|
rs367607383 CA9844519 |
467 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1315448577 CA408841521 |
474 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748157180 CA9844506 |
475 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844502 rs147698766 |
481 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452285528 CA408841299 |
484 | K>* | No |
ClinGen gnomAD |
|
|
CA314286094 rs886645360 |
485 | P>A | No |
ClinGen TOPMed |
|
|
CA408841214 rs1399199211 |
486 | K>R | No |
ClinGen TOPMed |
|
|
CA9844496 rs756729970 |
494 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA408840974 rs1369121169 |
495 | A>V | No |
ClinGen TOPMed |
|
|
rs1043178984 CA314286039 |
496 | E>D | No |
ClinGen TOPMed |
|
|
CA408840930 rs1568762364 |
497 | D>G | No |
ClinGen Ensembl |
|
|
CA408840946 rs1296340230 |
497 | D>N | No |
ClinGen TOPMed |
|
|
CA9844495 rs145323435 |
498 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314286006 rs370354908 |
499 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs747437917 CA314286001 |
500 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747437917 CA9844494 |
500 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA408840837 rs1239173926 |
501 | D>N | No |
ClinGen gnomAD |
|
|
CA408840406 rs750656746 |
502 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408840403 rs1369743736 |
502 | V>G | No |
ClinGen gnomAD |
|
|
rs750656746 CA9844472 |
502 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408840383 rs1301393476 |
505 | M>T | No |
ClinGen gnomAD |
|
|
rs762010553 CA9844470 |
506 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844471 rs139879373 |
506 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408840368 rs1452068179 |
507 | Y>C | No |
ClinGen gnomAD |
|
|
CA408840360 rs1363652608 |
508 | G>A | No |
ClinGen gnomAD |
|
|
CA408840359 rs1363652608 |
508 | G>E | No |
ClinGen gnomAD |
|
|
CA408840352 rs1457980985 |
509 | M>I | No |
ClinGen TOPMed |
|
|
CA408840357 rs1177343745 |
509 | M>V | No |
ClinGen gnomAD |
|
|
CA314281820 rs267605918 |
514 | P>L | No |
ClinGen Ensembl |
|
|
CA314281825 rs202010124 |
514 | P>T | No |
ClinGen TOPMed |
|
|
rs755813438 CA314281815 |
515 | I>V | No |
ClinGen TOPMed |
|
|
rs1198027701 CA408840289 |
516 | D>N | No |
ClinGen gnomAD |
|
|
CA9844468 rs764260188 |
517 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs5022484 CA314281797 |
519 | S>I | No |
ClinGen Ensembl |
|
|
rs1335492611 RCV000519967 CA408840215 |
521 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA314281784 rs1046544176 |
522 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1601113209 CA408840187 |
523 | K>* | No |
ClinGen Ensembl |
|
|
rs760599812 CA9844467 |
524 | T>S | No |
ClinGen ExAC |
|
|
CA314281778 rs948134548 |
525 | A>S | No |
ClinGen Ensembl |
|
|
CA9844466 rs199896513 |
528 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408840100 rs1310396616 |
530 | I>T | No |
ClinGen gnomAD |
|
|
rs1212087633 CA408840103 |
530 | I>V | No |
ClinGen gnomAD |
|
|
CA9844465 rs771813288 |
531 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9844463 rs774024394 |
532 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9844462 rs770504610 |
533 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9844461 rs748810030 |
535 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs759254978 CA9844448 |
537 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs774073826 CA9844447 |
544 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401777461 CA408839559 |
545 | F>C | No |
ClinGen gnomAD |
|
|
CA314281303 rs17855600 |
546 | A>V | No |
ClinGen gnomAD |
|
|
CA9844446 rs770698943 |
547 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368663361 CA408839524 |
551 | R>Q | No |
ClinGen gnomAD |
|
|
rs1166549601 CA408839521 |
552 | V>I | No |
ClinGen gnomAD |
|
|
rs970976656 CA314281273 |
554 | C>R | No |
ClinGen Ensembl |
|
|
CA9844445 rs769234037 |
557 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769234037 CA9844444 |
557 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780453399 CA9844442 |
561 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA408839451 rs1268840186 |
561 | S>R | No |
ClinGen TOPMed |
|
|
CA9844441 rs6130037 |
563 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844438 rs754164797 |
567 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs895289035 CA314281196 |
570 | V>F | No |
ClinGen Ensembl |
|
|
CA408839386 rs1423713693 |
571 | Q>R | No |
ClinGen Ensembl |
|
|
CA314281194 rs1005242982 |
572 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408839376 rs1005242982 |
572 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9844436 rs778094031 |
579 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408839318 rs1255928710 |
580 | K>M | No |
ClinGen TOPMed |
|
|
rs752755786 CA9844434 |
581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9844417 rs777863189 |
583 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs940227703 CA314277922 |
586 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs751545200 CA9844412 |
588 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408838644 rs1217711183 |
588 | A>V | No |
ClinGen gnomAD |
|
|
rs868061483 CA314277896 |
594 | Q>R | No |
ClinGen gnomAD |
|
|
rs1346366286 CA408838575 |
595 | K>E | No |
ClinGen gnomAD |
|
|
CA408838565 rs1245985032 |
595 | K>N | No |
ClinGen TOPMed |
|
|
rs954400529 CA408838569 |
595 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs954400529 CA314277894 |
595 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9844410 rs758217797 |
597 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA408838513 rs1278359420 |
598 | W>C | No |
ClinGen gnomAD |
|
|
CA9844409 rs750147783 |
598 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs190893470 CA314277867 |
601 | S>C | No |
ClinGen 1000Genomes TOPMed |
|
|
CA314277866 rs1051223670 |
601 | S>N | No |
ClinGen Ensembl |
|
|
CA408838466 rs1311720542 |
602 | T>A | No |
ClinGen gnomAD |
|
|
rs1317411077 CA408838444 |
603 | S>L | No |
ClinGen gnomAD |
|
|
CA9844406 rs776120597 |
604 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174257327 CA408838387 |
608 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1174257327 CA408838389 |
608 | T>P | No |
ClinGen gnomAD |
|
|
CA408838376 rs1468297497 |
609 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1428692954 CA408838374 |
609 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760217203 CA9844404 |
611 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA314277847 rs150713148 |
611 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314277846 rs62208115 |
614 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9844402 rs62208115 |
614 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1461249128 CA408838283 |
616 | S>I | No |
ClinGen gnomAD |
|
|
CA9844400 rs773683280 |
618 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408838246 rs1322137511 |
619 | Q>R | No |
ClinGen gnomAD |
|
|
CA408838206 rs1168555778 |
622 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1601108339 RCV000788755 CA408838188 |
623 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1568756345 CA408838173 |
624 | D>E | No |
ClinGen Ensembl |
|
|
rs550047744 CA9844398 |
624 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1601108281 CA408838143 |
626 | M>I | No |
ClinGen Ensembl |
|
|
rs1269278007 CA408838151 |
626 | M>K | No |
ClinGen gnomAD |
|
|
CA9844397 rs767155031 |
626 | M>V | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9Y3Z3
[MIM: 612952]: Aicardi-Goutieres syndrome 5 (AGS5)
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:19525956, ECO:0000269|PubMed:20131292, ECO:0000269|PubMed:20842748, ECO:0000269|PubMed:24035396, ECO:0000269|PubMed:24183309, ECO:0000269|PubMed:28229507, ECO:0000269|PubMed:29670289}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614415]: Chilblain lupus 2 (CHBL2)
A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. {ECO:0000269|PubMed:21204240}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:19525956, ECO:0000269|PubMed:20131292, ECO:0000269|PubMed:20842748, ECO:0000269|PubMed:24035396, ECO:0000269|PubMed:24183309, ECO:0000269|PubMed:28229507, ECO:0000269|PubMed:29670289}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. {ECO:0000269|PubMed:21204240}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| tetraspanin-enriched microdomain | A pre-organized unit composed either of adhesion molecules (mainly integrins and members of the Ig superfamily), signaling receptors and/or enzyme-enriched plasma membrane domains that compartmentalizes cellular processes. Tetraspanin-enriched microdomains might be specially suited for the regulation of avidity of adhesion receptors and the compartmentalization of enzymatic activities. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| deoxynucleoside triphosphate hydrolase activity | Catalysis of the reaction: dNTP + H2O = 2'-deoxynucleoside + H+ + triphosphate. |
| dGTP binding | Binding to dGTP, deoxyguanosine triphosphate. |
| dGTPase activity | Catalysis of the reaction: dGTP + H(2)O = 2'-deoxyguanosine + 2 H(+) + triphosphate. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| nucleic acid binding | Binding to a nucleic acid. |
| ribonuclease activity | Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| triphosphoric monoester hydrolase activity | Catalysis of the hydrolysis of a triphosphoester to give a triphosphate group and a free hydroxyl group. |
| zinc ion binding | Binding to a zinc ion (Zn). |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| dATP catabolic process | The chemical reactions and pathways resulting in the breakdown of dATP, deoxyadenosine triphosphate (2'-deoxyadenosine 5'-triphosphate). |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| deoxyribonucleotide catabolic process | The chemical reactions and pathways resulting in the breakdown of a deoxyribonucleotide, a compound consisting of deoxyribonucleoside (a base linked to a deoxyribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. |
| dGTP catabolic process | The chemical reactions and pathways resulting in the breakdown of dGTP, guanosine triphosphate. |
| DNA strand resection involved in replication fork processing | The 5' to 3' exonucleolytic resection of DNA at the site of a stalled replication fork that contributes to replication fork processing. |
| double-strand break repair via homologous recombination | The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of type I interferon-mediated signaling pathway | Any process that decreases the rate, frequency or extent of a type I interferon-mediated signaling pathway. |
| protein homotetramerization | The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits. |
| regulation of innate immune response | Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| somatic hypermutation of immunoglobulin genes | Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZJL9 | SAMHD1 | Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 | Gallus gallus (Chicken) | PR |
| P15723 | dgt | Deoxyguanosinetriphosphate triphosphohydrolase | Escherichia coli (strain K12) | PR |
| Q60710 | Samhd1 | Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQRADSEQPS | KRPRCDDSPR | TPSNTPSAEA | DWSPGLELHP | DYKTWGPEQV | CSFLRRGGFE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPVLLKNIRE | NEITGALLPC | LDESRFENLG | VSSLGERKKL | LSYIQRLVQI | HVDTMKVIND |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PIHGHIELHP | LLVRIIDTPQ | FQRLRYIKQL | GGGYYVFPGA | SHNRFEHSLG | VGYLAGCLVH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALGEKQPELQ | ISERDVLCVQ | IAGLCHDLGH | GPFSHMFDGR | FIPLARPEVK | WTHEQGSVMM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FEHLINSNGI | KPVMEQYGLI | PEEDICFIKE | QIVGPLESPV | EDSLWPYKGR | PENKSFLYEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VSNKRNGIDV | DKWDYFARDC | HHLGIQNNFD | YKRFIKFARV | CEVDNELRIC | ARDKEVGNLY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DMFHTRNSLH | RRAYQHKVGN | IIDTMITDAF | LKADDYIEIT | GAGGKKYRIS | TAIDDMEAYT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLTDNIFLEI | LYSTDPKLKD | AREILKQIEY | RNLFKYVGET | QPTGQIKIKR | EDYESLPKEV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASAKPKVLLD | VKLKAEDFIV | DVINMDYGMQ | EKNPIDHVSF | YCKTAPNRAI | RITKNQVSQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LPEKFAEQLI | RVYCKKVDRK | SLYAARQYFV | QWCADRNFTK | PQDGDVIAPL | ITPQKKEWND |
| 610 | 620 | ||||
| STSVQNPTRL | REASKSRVQL | FKDDPM |