Q96RR1
PR
Gene name |
TWNK |
Protein name |
Twinkle mtDNA helicase |
Names |
Progressive external ophthalmoplegia 1 protein, T7 gp4-like protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase, Twinkle protein, mitochondrial |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56652 |
EC number |
5.6.2.3: Enzymes altering nucleic acid conformation |
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
3 structures for Q96RR1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7T8B | EM | 380 A | A/B/C/D/E/F/G/H | 1-684 | PDB |
| 7T8C | EM | 450 A | A/B/C/D/E/F/G | 1-684 | PDB |
| AF-Q96RR1-F1 | Predicted | AlphaFoldDB |
535 variants for Q96RR1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs779142717 RCV000855767 |
17 | L>missing | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001107309 rs767175342 RCV001107306 RCV001107308 RCV001107307 RCV000489778 CA5653011 |
19 | G>E | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000350458 RCV000311980 RCV001515622 rs577209883 RCV000406517 CA5653019 RCV000398995 |
26 | G>S | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003114470 CA5653022 RCV000261511 RCV000300245 rs772221026 RCV000315587 RCV000353789 |
26 | G>V | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001107964 RCV001107963 RCV001107965 RCV000320273 RCV001102728 RCV001848043 CA5653043 rs145068570 |
81 | L>V | Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA264204 RCV000419446 RCV000050141 rs386834147 |
83 | P>S | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000322115 rs886046630 RCV000264619 CA10627870 RCV000357427 RCV000378949 |
92 | G>S | Mitochondrial DNA depletion syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions Ataxia Neuropathy Spectrum Disorders Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240394 rs886037832 |
112 | L>missing | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001104649 RCV002555029 RCV001104648 CA378207767 RCV001104650 RCV001105816 rs1564807938 |
199 | R>Q | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1382829987 CA378207945 RCV001253009 |
217 | R>* | Variant assessed as Somatic; 0.0 impact. Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs754081544 RCV000198396 CA322899 RCV000727648 RCV000855770 |
246 | N>S | Perrault syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002538880 RCV001869311 rs764669712 RCV000855727 CA5653118 |
265 | R>C | Infantile onset spinocerebellar ataxia Perrault syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA378208744 RCV000677240 RCV002530362 rs759603316 |
292 | P>T | Perrault syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000239858 CA5653134 rs374997012 RCV001762457 |
302 | R>W | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA116969 rs137852956 RCV001289123 VAR_065102 RCV000004891 |
303 | R>Q | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_023647 CA378208813 rs1159929268 |
303 | R>W | PEOA3; also detected in a case showing digenic inheritance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV001108049 RCV001108048 RCV001108046 rs753457416 RCV001108047 CA212963101 |
305 | V>I | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Variant assessed as Somatic; impact. Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs111033575 RCV000004883 VAR_023648 CA116962 |
315 | W>L | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3; reduced single-strand DNA binding; increased heptamer oligomerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_065103 | 315 | W>S | PEOA3; reduces helicase activity; reduced single-strand DNA binding [UniProt] | Yes | UniProt |
|
RCV000020866 RCV002251876 VAR_065104 rs80356542 CA342356 |
318 | A>T | Infantile onset spinocerebellar ataxia Variant assessed as Somatic; 4.622e-05 impact. MTDPS7 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_023649 CA116968 RCV000004888 rs80356543 RCV000020867 |
319 | K>E | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis; reduces helicase activity and single-strand DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_023650 | 319 | K>T | PEOA3 [UniProt] | Yes | UniProt |
| VAR_065105 | 334 | R>P | PEOA3 [UniProt] | Yes | UniProt |
|
RCV000004886 CA116965 RCV000508769 RCV001542762 RCV001093424 VAR_023651 RCV002288465 rs28937887 |
334 | R>Q | Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Mitochondrial disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; retains hexamer and heptamer formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_023652 | 335 | P>L | PEOA3; displays unusual oligomeric forms [UniProt] | Yes | UniProt |
|
RCV000508711 rs1554887028 CA378209644 RCV000497430 RCV001332412 |
335 | P>T | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Mitochondrial disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000994494 RCV000273839 CA5653154 rs62626271 RCV000296339 RCV000388304 VAR_062268 RCV000331424 |
348 | G>R | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_023653 CA116963 RCV000004884 rs111033576 |
354 | R>P | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001102839 RCV001102838 RCV000779014 RCV001102837 VAR_065106 CA378209783 RCV003222127 rs758026634 |
357 | R>P | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_023654 RCV002512779 RCV000004881 rs111033573 RCV000508874 CA116959 |
359 | A>T | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Mitochondrial disease PEOA3; reduces helicase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_065107 | 360 | L>G | MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions [UniProt] | Yes | UniProt |
|
VAR_065108 rs1554887075 RCV000516974 CA378209807 |
362 | A>P | PEOA3 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_065109 | 363 | W>L | PEOA3 [UniProt] | Yes | UniProt |
| VAR_023655 | 367 | I>T | PEOA3 [UniProt] | Yes | UniProt |
|
CA302708 RCV001104760 RCV000390596 rs17113613 RCV000173517 RCV000676301 RCV001104761 RCV001847742 RCV001104762 VAR_023656 |
368 | V>I | Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_023657 | 369 | S>P | PEOA3; reduces helicase activity; increases single strand DNA affinity; reduces closed-ring quaternary structure formation [UniProt] | Yes | UniProt |
|
RCV000004887 VAR_023658 CA116967 rs111033579 |
369 | S>Y | Variant assessed as Somatic; impact. Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
| VAR_065110 | 370 | F>C | PEOA3 [UniProt] | Yes | UniProt |
|
RCV000195885 CA320266 rs863223920 VAR_065111 |
370 | F>L | PEOA3 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000508920 RCV000517894 VAR_023659 CA378209878 rs1554887097 RCV000626956 |
374 | R>Q | Progressive external ophthalmoplegia Mitochondrial disease PEOA3; reduces helicase activity and alters nucleoid structure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000523637 RCV000004892 CA116970 COSM913999 rs267606682 |
374 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000004885 CA116964 RCV000508905 rs111033577 VAR_023660 |
381 | L>P | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Mitochondrial disease PEOA3; reduces closed-ring quaternary structure formation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002516005 RCV000345001 RCV002516006 VAR_072657 CA174962 rs556445621 RCV000149470 RCV000403533 RCV000305281 RCV000290037 |
391 | R>H | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Perrault syndrome 5 Variant assessed as Somatic; 0.0 impact. Perrault syndrome Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (sando) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PRLTS5 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1745577 RCV001105893 RCV001105894 RCV002515383 RCV001105895 CA324207 RCV000578276 rs863223921 RCV001722090 |
399 | N>S | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Perrault syndrome urinary_tract Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel CA378210044 rs781016340 RCV000855762 |
400 | R>L | Infantile onset spinocerebellar ataxia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA ExAC dbSNP gnomAD |
| VAR_065112 | 426 | S>N | PEOA3 [UniProt] | Yes | UniProt |
|
RCV001336024 rs1382315425 CA378210439 |
432 | L>F | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA378210505 COSM159448 rs1366090807 RCV000855765 |
438 | N>K | Infantile onset spinocerebellar ataxia breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000149472 rs672601361 RCV002516007 CA174964 VAR_072658 |
441 | W>G | Perrault syndrome 5 Perrault syndrome PRLTS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000415948 rs386834145 VAR_067722 CA264201 RCV000050139 |
456 | L>V | Infantile onset spinocerebellar ataxia MTDPS7; infantile spinocerebellar ataxia phenotype [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000004889 CA253242 rs80356544 VAR_039045 |
457 | T>I | Infantile onset spinocerebellar ataxia MTDPS7; affects helicase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_065113 RCV000508722 CA378210725 rs1554887213 |
458 | Q>H | Mitochondrial disease PEOA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_065114 | 460 | A>P | PEOA3 [UniProt] | Yes | UniProt |
|
rs386834146 RCV003137593 RCV000050140 CA264202 |
463 | R>W | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA378210783 rs1554887222 RCV000508820 |
464 | L>P | Mitochondrial disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002496262 rs111033574 RCV000004882 CA116960 |
474 | W>* | Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs111033574 CA212963556 VAR_023661 CA378210872 COSM346258 RCV000855769 RCV002536207 |
474 | W>C | lung Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PEOA3; reduces helicase activity and alters nucleoid structure [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated Ensembl ClinVar UniProt dbSNP |
|
rs11542127 VAR_065115 CA212963554 |
474 | W>S | PEOA3 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_065116 | 475 | A>D | PEOA3 [UniProt] | Yes | UniProt |
|
rs111033572 RCV000004880 VAR_023662 CA116958 |
475 | A>P | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PEOA3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_065117 | 478 | F>I | PEOA3 [UniProt] | Yes | UniProt |
|
VAR_065118 RCV000489376 rs1085307937 CA378210898 |
479 | E>K | PEOA3 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000790907 rs1590020571 CA378210914 |
481 | L>V | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000521090 RCV000149473 CA174965 VAR_072659 RCV002514866 rs369588002 |
507 | V>I | Perrault syndrome 5 Perrault syndrome PRLTS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA324445 VAR_043797 RCV000199894 RCV000020865 rs80356540 |
508 | Y>C | Infantile onset spinocerebellar ataxia MTDPS7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001880019 rs1219162535 CA378211209 RCV001261411 |
522 | M>I | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001105995 RCV002555039 rs139124415 RCV001105994 RCV001839029 RCV001105993 RCV001105996 CA5653292 |
533 | A>T | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001105998 RCV000726623 RCV001106000 CA5653294 RCV001105999 RCV001848766 RCV001105997 rs144001072 |
537 | Y>H | Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5653303 RCV000855763 rs753386843 RCV001759642 |
543 | R>Q | Infantile onset spinocerebellar ataxia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000300073 CA323752 RCV000284653 RCV000909034 RCV000402465 rs116046810 RCV000199218 RCV000339690 |
566 | K>R | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002514865 RCV000149471 rs672601360 VAR_072660 CA174963 |
585 | N>S | Perrault syndrome 5 Perrault syndrome PRLTS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001103035 RCV001103036 RCV001103037 RCV001103038 rs1274226715 |
609 | R>L | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000274568 rs886046632 RCV000429667 CA10634726 RCV000310922 RCV000271132 RCV000365721 |
618 | P>L | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001104942 CA378212632 RCV001104941 rs1426435572 RCV002240733 RCV001104943 RCV001104940 |
636 | A>T | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000712523 RCV000322888 RCV000267823 COSM3686478 RCV000326494 CA324977 rs370814108 RCV001838991 RCV000381173 |
659 | A>T | Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis large_intestine Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1851842282 RCV002546560 RCV001332413 |
669 | G>S | Infantile onset spinocerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000377740 rs182559752 RCV000338208 RCV000283282 RCV000374204 RCV000871398 CA323951 RCV001847877 |
682 | R>H | Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000406261 RCV001336025 RCV000278667 RCV001722382 rs369223258 RCV001848044 CA5653396 RCV000312773 RCV000352301 |
684 | K>Q | Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome Ataxia Neuropathy Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1230448606 CA378205653 |
2 | W>* | No |
ClinGen TOPMed |
|
|
CA378205666 rs1261713756 |
3 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs773555208 CA5653002 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1262496221 CA378205682 |
5 | L>I | No |
ClinGen gnomAD |
|
|
CA5653004 rs771350689 |
9 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA378205730 rs1390351815 |
9 | Y>C | No |
ClinGen TOPMed |
|
|
rs777222632 CA5653005 |
10 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751100420 CA5653008 |
11 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866751101 CA212962441 |
15 | L>F | No |
ClinGen Ensembl |
|
|
rs1426879120 CA378205797 |
16 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761301681 CA378205804 |
17 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761301681 CA5653010 |
17 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA212962488 rs976680618 |
18 | R>P | No |
ClinGen TOPMed |
|
| TCGA novel | 20 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5653013 rs755935114 |
22 | M>R | No |
ClinGen ExAC |
|
|
rs753646922 CA5653016 |
24 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA378205886 rs1177027091 |
24 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378205881 rs753646922 |
24 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs200989355 CA5653017 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5653020 rs772221026 |
26 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378205898 rs577209883 |
26 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378205922 rs1292672301 |
29 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378205921 rs1292672301 |
29 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5653024 rs771346051 |
31 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5653023 rs747184257 |
31 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5653026 rs759944718 |
33 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1480849863 CA378205969 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs770264297 CA5653027 |
34 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA378205991 rs1438746961 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA212962567 rs954019330 |
36 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1357763459 CA378206006 |
37 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229552639 CA378206016 |
38 | R>T | No |
ClinGen TOPMed |
|
|
CA212962575 rs145595491 |
39 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA16605592 RCV000427539 rs1057523065 |
39 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA212962577 rs915248538 |
41 | R>K | No |
ClinGen TOPMed |
|
|
CA378206049 rs1322156943 |
41 | R>S | No |
ClinGen gnomAD |
|
|
rs945410182 CA212962578 |
43 | E>K | No |
ClinGen TOPMed |
|
|
rs1349608049 CA378206091 |
45 | L>F | No |
ClinGen gnomAD |
|
|
rs761320180 CA5653029 |
47 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs761320180 CA378206110 |
47 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1367610981 CA378206123 |
48 | L>S | No |
ClinGen TOPMed |
|
|
CA5653030 rs766975185 |
49 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5653032 rs373068264 |
57 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 59 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378206249 rs1422614891 |
60 | I>V | No |
ClinGen TOPMed |
|
|
rs1364867099 CA378206266 |
62 | Q>* | No |
ClinGen TOPMed |
|
|
rs754786868 CA5653035 |
65 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5653034 rs753640924 |
65 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs778728809 CA5653036 |
66 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554886713 RCV000484985 |
67 | H>missing | No |
ClinVar dbSNP |
|
|
rs758579308 CA5653038 |
67 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1191234637 CA378206326 |
70 | P>L | No |
ClinGen TOPMed |
|
|
CA378206322 rs1244379901 |
70 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590017444 CA378206380 |
75 | H>Y | No |
ClinGen Ensembl |
|
|
CA5653041 rs757457959 |
78 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378206435 rs1161931797 |
79 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs201523414 CA5653042 |
80 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268791190 CA378206451 |
81 | L>P | No |
ClinGen TOPMed |
|
|
CA378206478 rs386834147 |
83 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378206489 rs1446248692 RCV001093423 |
83 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 86 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770133782 CA5653044 |
90 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA212962628 rs970845377 |
93 | Q>R | No |
ClinGen Ensembl |
|
|
rs149104307 CA5653046 |
94 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5653047 rs370982227 |
95 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312289273 CA378206660 |
95 | G>C | No |
ClinGen TOPMed |
|
|
CA378206653 rs1312289273 |
95 | G>S | No |
ClinGen TOPMed |
|
|
rs1339977334 CA378206669 |
96 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772751928 CA378206695 |
97 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212962658 rs772751928 |
97 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653048 rs772751928 |
97 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378206698 rs1393984795 |
98 | T>A | No |
ClinGen TOPMed |
|
|
CA5653050 rs760229194 |
99 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5653049 rs760229194 |
99 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378206775 rs1317079206 |
102 | L>P | No |
ClinGen gnomAD |
|
|
CA378206835 rs1264649023 |
105 | D>E | No |
ClinGen gnomAD |
|
|
CA378206823 rs1203852229 |
105 | D>N | No |
ClinGen gnomAD |
|
|
CA378206859 rs1459742745 |
107 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188815705 CA378206931 |
112 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1188815705 CA378206932 |
112 | L>V | No |
ClinGen gnomAD |
|
|
CA320131 RCV000195756 rs863223917 |
113 | C>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs863223916 CA325441 RCV000200862 |
114 | M>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5653053 rs765038479 |
114 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378206976 rs1177653405 |
115 | T>A | No |
ClinGen gnomAD |
|
|
CA5653054 rs752699549 |
118 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA378207037 rs1408541671 |
118 | A>T | No |
ClinGen gnomAD |
|
|
CA378207044 rs752699549 COSM913994 |
118 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1554886770 CA378207047 |
119 | E>K | No |
ClinGen Ensembl |
|
|
rs758456031 CA5653055 |
125 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1327106595 CA378207203 |
127 | A>V | No |
ClinGen gnomAD |
|
|
rs1223860510 CA378207230 |
129 | V>E | No |
ClinGen gnomAD |
|
|
rs757306944 CA5653058 |
129 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378207233 rs1285025956 |
130 | E>* | No |
ClinGen gnomAD |
|
|
rs781279648 CA5653059 |
132 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746066180 CA5653060 |
133 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772961299 CA212962735 |
134 | D>N | No |
ClinGen gnomAD |
|
|
CA5653061 RCV000994493 rs375005531 |
135 | G>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780446227 CA5653062 |
136 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408088932 CA378207324 |
139 | G>E | No |
ClinGen gnomAD |
|
|
RCV000196536 CA320958 RCV002261005 rs143938897 |
145 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA212962776 COSM1739638 rs760224175 |
152 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs760224175 CA212962777 |
152 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA212962778 rs377397119 |
154 | V>D | No |
ClinGen ESP |
|
|
CA378207432 rs200405447 |
155 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172222418 CA378207433 |
155 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200405447 CA5653065 |
155 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5653067 rs776177991 |
156 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs759176256 CA5653068 |
160 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5653069 rs764957225 |
162 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212962820 rs765058338 |
167 | L>V | No |
ClinGen TOPMed |
|
|
CA5653071 rs370756491 |
168 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1051839743 CA212962828 |
169 | D>E | No |
ClinGen Ensembl |
|
|
CA378207533 rs1232016292 |
170 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764143807 CA5653073 |
172 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653074 rs751479054 |
173 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757316627 CA5653075 |
174 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs767589437 CA5653076 |
174 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199810842 CA5653077 |
176 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5653078 rs756400035 |
178 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs375179111 CA5653079 |
179 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378207597 rs1450258498 |
180 | F>C | No |
ClinGen gnomAD |
|
|
CA5653080 rs754261446 |
181 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378207607 rs1285511153 |
182 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755275071 CA5653081 |
183 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755275071 CA5653082 |
183 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653083 rs748648084 |
184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378207641 rs1214443703 |
187 | D>G | No |
ClinGen gnomAD |
|
|
CA5653085 rs780799588 COSM913995 |
187 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1385982777 CA378207659 |
188 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs146532064 CA5653086 |
188 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5653087 rs367943955 |
189 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378207681 rs1337146885 |
191 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 191 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590018153 CA378207697 RCV000855766 |
192 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA378207746 rs1359549423 |
196 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5653091 rs774181599 |
201 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761860054 CA5653093 |
202 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378207779 rs761860054 |
202 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653094 rs750584888 |
202 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761860054 CA5653092 |
202 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563671198 CA212962878 |
203 | S>R | No |
ClinGen Ensembl |
|
|
rs863223918 CA322112 |
204 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1177022784 CA378207805 |
205 | V>F | No |
ClinGen gnomAD |
|
|
CA378207855 rs1237595030 |
208 | W>C | No |
ClinGen gnomAD |
|
|
CA378207887 rs766599320 |
211 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA378207889 rs966723471 |
211 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA212962904 rs966723471 |
211 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5653096 rs766599320 |
211 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA378207896 rs1457399193 |
212 | G>E | No |
ClinGen gnomAD |
|
|
CA5653097 rs117140867 |
212 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 213 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970360602 CA212962909 |
213 | G>R | No |
ClinGen gnomAD |
|
|
CA16606613 RCV000429304 rs1057524510 |
213 | G>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs779199087 CA378207946 |
217 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs779199087 COSM1345345 CA5653098 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs374138176 CA212962911 |
222 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA378208001 rs1310014162 |
223 | E>V | No |
ClinGen gnomAD |
|
|
CA212962920 rs187291192 |
226 | C>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA378208070 rs1257628421 |
228 | G>E | No |
ClinGen gnomAD |
|
|
CA5653100 rs372267201 |
228 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378208079 rs1420378919 |
229 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5653101 rs142978552 |
230 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745439509 CA5653102 |
231 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5653103 rs374836149 |
232 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779886341 CA5653104 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768405067 CA5653107 |
234 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774241806 CA378208197 |
238 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774241806 CA5653108 |
238 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212962980 rs757838397 |
240 | R>* | No |
ClinGen Ensembl |
|
|
CA378208226 rs1444718593 |
240 | R>Q | No |
ClinGen TOPMed |
|
|
rs761509248 CA5653109 |
241 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA378208230 rs761509248 |
241 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400893442 COSM200073 CA378208253 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs766404600 CA5653113 |
245 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296965467 CA378208285 |
245 | H>Y | No |
ClinGen gnomAD |
|
|
CA212962999 rs933291706 |
248 | F>L | No |
ClinGen Ensembl |
|
|
CA378208385 rs562966714 |
253 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753170387 CA5653116 |
254 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA212963007 rs879187580 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1564808222 CA378208398 |
255 | R>H | No |
ClinGen Ensembl |
|
|
rs1432998932 CA378208468 |
263 | T>M | No |
ClinGen TOPMed |
|
|
CA378208491 rs764669712 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378208493 rs1590018693 |
265 | R>H | No |
ClinGen Ensembl |
|
|
RCV000422363 rs139419993 RCV002521619 CA5653119 |
267 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378208638 rs1415664013 |
276 | T>M | No |
ClinGen Ensembl |
|
|
CA378208679 rs1453819972 |
280 | T>I | No |
ClinGen gnomAD |
|
|
CA5653125 rs747990251 |
283 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA212963026 rs867314503 |
283 | L>V | No |
ClinGen Ensembl |
|
|
COSM1675499 RCV000760488 rs1564808324 CA378208702 |
285 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1346554074 CA378208703 |
285 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777472403 CA5653128 |
287 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776728076 CA5653130 |
291 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5653131 rs759603316 |
292 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5653132 rs371213994 |
292 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378208750 rs1564808387 |
293 | A>D | No |
ClinGen Ensembl |
|
|
rs1240963100 CA378208771 |
296 | P>R | No |
ClinGen TOPMed |
|
|
rs764320542 CA5653135 |
302 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212963094 rs137852956 |
303 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212963096 rs200279747 |
304 | I>V | No |
ClinGen Ensembl |
|
|
CA5653138 rs753457416 |
305 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292194863 CA378208856 |
310 | D>N | No |
ClinGen gnomAD |
|
|
CA5653140 rs778633466 |
311 | D>G | No |
ClinGen ExAC |
|
|
COSM1745576 rs747714427 CA5653141 |
313 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs111033575 CA212963114 |
315 | W>* | No |
ClinGen Ensembl |
|
|
CA212963119 rs893982151 |
318 | A>V | No |
ClinGen Ensembl |
|
|
rs80356543 CA212963126 |
319 | K>Q | No |
ClinGen Ensembl |
|
|
rs1323485182 CA378208919 |
320 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | A>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs863223919 CA323373 RCV000198844 |
323 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs770917763 CA378208942 |
323 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770917763 CA5653145 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378208962 rs1404722238 |
326 | N>K | No |
ClinGen TOPMed |
|
|
rs1851689793 RCV001172038 |
329 | R>* | No |
ClinVar dbSNP |
|
|
rs1480717750 CA378209005 |
332 | L>F | No |
ClinGen gnomAD |
|
|
RCV001199239 rs776533804 CA5653147 |
334 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA212963147 rs28937887 |
334 | R>L | No |
ClinGen Ensembl |
|
|
CA378209662 rs1438573088 |
337 | D>E | No |
ClinGen gnomAD |
|
|
rs1183712053 RCV000521964 CA378209670 |
338 | Q>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA378209673 rs1415125907 |
339 | Q>* | No |
ClinGen gnomAD |
|
|
rs566579080 CA324856 RCV001722089 |
341 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs764350676 CA5653150 RCV000519610 |
341 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 341 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564808575 CA378209692 |
342 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378209711 rs1554887046 RCV000497881 |
345 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5653155 rs759115170 |
349 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764602456 CA5653156 |
349 | G>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001553334 rs370231886 CA5653157 |
351 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378209763 rs1590019382 |
353 | S>F | No |
ClinGen Ensembl |
|
|
CA212963192 rs533720034 |
354 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
RCV001312169 CA378209766 rs111033576 |
354 | R>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1427133383 CA378209773 |
355 | I>M | No |
ClinGen TOPMed |
|
|
rs1035029923 CA212963206 |
355 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242628813 CA378209775 |
356 | L>V | No |
ClinGen gnomAD |
|
|
rs1198520632 CA378209782 |
357 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758026634 COSM1157856 CA5653159 |
357 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA378209785 rs1234350461 |
358 | T>A | No |
ClinGen TOPMed |
|
|
rs1851695223 RCV001197687 |
359 | A>missing | No |
ClinVar dbSNP |
|
|
rs111033573 CA212963207 |
359 | A>S | No |
ClinGen Ensembl |
|
|
rs374391687 CA5653161 |
359 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 363 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474020915 CA378209829 |
365 | K>E | No |
ClinGen gnomAD |
|
|
CA5653163 rs781110357 |
365 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5653162 rs377456836 |
365 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5653165 rs17113613 |
368 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378209854 rs111033579 |
369 | S>C | No |
ClinGen gnomAD |
|
|
rs111033579 CA212963225 |
369 | S>F | No |
ClinGen gnomAD |
|
|
CA321847 rs143309797 RCV000197393 |
371 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5653166 rs374735277 |
371 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA212963230 rs984995611 |
372 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5653167 rs774661148 |
373 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA378209902 rs1590019602 |
377 | V>G | No |
ClinGen Ensembl |
|
|
CA212963245 rs111033577 |
381 | L>R | No |
ClinGen Ensembl |
|
|
rs1085307565 RCV000490052 CA378209932 |
383 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs377177910 CA5653169 |
387 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5653170 rs370378906 |
391 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378209987 rs556445621 |
391 | R>L | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (sando) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA378209984 rs370378906 |
391 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400474726 CA378210007 |
394 | R>C | No |
ClinGen gnomAD |
|
|
rs752211501 CA5653172 |
394 | R>H | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000497360 rs1440229445 CA378210011 |
395 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA378210014 rs1208868491 |
395 | F>S | No |
ClinGen gnomAD |
|
|
rs762511554 CA5653174 |
396 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs762511554 CA5653173 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5653175 rs751144474 |
397 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757068910 CA212963294 |
400 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5653177 rs781016340 |
400 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs757068910 CA5653176 |
400 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378210102 rs1427304513 |
406 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5653179 rs756073260 COSM1675500 |
406 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs780031915 CA5653180 |
407 | K>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000196072 rs749345054 CA320475 |
410 | L>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000855768 CA378210164 rs1451037596 |
411 | T>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1233455724 CA378210186 |
413 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176907520 CA378210274 |
418 | G>A | No |
ClinGen gnomAD |
|
|
rs368354221 CA5653204 |
418 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777033943 CA5653205 |
419 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA212963451 rs773355273 |
423 | T>S | No |
ClinGen Ensembl |
|
|
rs773918715 RCV000855764 CA378210346 |
424 | F>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA378210335 rs1356896874 |
424 | F>L | No |
ClinGen TOPMed |
|
|
CA378210379 rs11542126 VAR_051267 |
427 | E>G | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs960756488 CA212963462 |
428 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA378210413 rs1564809091 |
430 | L>Q | No |
ClinGen Ensembl |
|
|
rs372311614 CA5653210 |
434 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372311614 CA5653209 |
434 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322352 rs863223922 CA212963483 |
436 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs955238004 CA212963484 |
442 | G>S | No |
ClinGen Ensembl |
|
|
CA378210557 rs1165301606 |
443 | S>N | No |
ClinGen TOPMed |
|
|
rs766151894 CA5653213 |
446 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378210621 rs1267544428 |
448 | N>S | No |
ClinGen gnomAD |
|
|
CA5653215 rs755002219 |
449 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1284622578 CA378210656 |
452 | A>T | No |
ClinGen gnomAD |
|
|
CA212963491 rs760988188 |
453 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs572114433 RCV000487273 COSM1345348 CA5653217 |
453 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA378210689 rs1554887207 RCV000498931 |
455 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000994495 CA378210745 rs1590020406 |
460 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5653219 rs776518524 RCV000513096 |
461 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378210768 rs1357673310 |
462 | G>E | No |
ClinGen TOPMed |
|
|
rs386834146 CA378210773 |
463 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5653220 rs757583061 |
463 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653222 rs746228693 |
465 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1292886347 CA378210840 |
470 | K>R | No |
ClinGen TOPMed |
|
|
CA378210849 rs1233044838 |
471 | Y>F | No |
ClinGen gnomAD |
|
|
RCV000421084 CA16605946 rs1057523561 |
472 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1590020531 CA378210881 |
476 | D>A | No |
ClinGen Ensembl |
|
|
rs760427334 CA5653228 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001172039 CA378210887 rs1364676852 |
477 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA5653229 rs760427334 |
477 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776631813 CA5653230 |
480 | D>A | No |
ClinGen ExAC |
|
|
CA378210906 rs1293190304 |
480 | D>N | No |
ClinGen TOPMed |
|
|
CA378210927 rs1202292107 |
483 | L>H | No |
ClinGen gnomAD |
|
|
rs759388862 CA5653231 |
486 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA378210958 rs1564809364 |
487 | T>I | No |
ClinGen Ensembl |
|
|
RCV000198764 rs863223925 |
488 | F>missing | No |
ClinVar dbSNP |
|
|
rs765275995 CA5653232 |
489 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA378210978 rs1169335272 |
490 | G>E | No |
ClinGen gnomAD |
|
|
rs976376346 CA212963582 COSM1188026 |
491 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1377656240 CA378210999 |
493 | S>T | No |
ClinGen gnomAD |
|
|
CA5653251 rs762994786 |
496 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5653253 rs568347441 |
497 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5653254 rs761742006 |
498 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780448299 CA5653258 |
499 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5653256 rs371334193 |
499 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5653257 COSM1188027 rs371334193 |
499 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1564809704 CA378211057 |
500 | T>I | No |
ClinGen Ensembl |
|
|
rs754173710 CA5653259 |
501 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs863223923 CA324306 RCV000712522 |
504 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA212963862 rs998677341 |
505 | V>I | No |
ClinGen Ensembl |
|
|
rs779272755 CA5653261 |
506 | Y>C | No |
ClinGen ExAC |
|
|
rs1324171441 CA378211121 |
510 | I>V | No |
ClinGen gnomAD |
|
|
rs756936300 CA212963881 |
511 | C>S | No |
ClinGen Ensembl |
|
|
CA378211136 rs1564809766 RCV000727647 |
512 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000196225 rs863223924 CA320649 |
513 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769546687 CA5653264 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378211153 rs1316077197 |
515 | I>V | No |
ClinGen TOPMed |
|
|
CA5653266 rs182492331 |
519 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378211197 rs1313100282 |
521 | M>L | No |
ClinGen gnomAD |
|
|
rs768653093 CA5653267 |
522 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378211213 rs1272128885 |
523 | G>R | No |
ClinGen gnomAD |
|
|
rs1457982495 CA378211218 |
524 | H>Y | No |
ClinGen gnomAD |
|
|
CA5653270 rs371701332 |
525 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371701332 CA5653269 |
525 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378211261 rs1564809841 |
530 | D>G | No |
ClinGen Ensembl |
|
|
CA212964108 rs747042999 |
534 | A>S | No |
ClinGen gnomAD |
|
|
rs1004262960 CA212964113 |
537 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200192223 CA5653295 |
539 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5653296 rs200192223 |
539 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5653299 rs759011955 |
539 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653297 rs753082900 |
539 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs200192223 CA378211330 |
539 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5653300 rs568256888 |
540 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378211341 rs1304698591 |
541 | V>D | No |
ClinGen TOPMed |
|
|
CA5653302 rs779788390 |
543 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA378211369 rs1427367241 |
545 | F>L | No |
ClinGen gnomAD |
|
|
CA378211382 rs1432727745 |
547 | T>I | No |
ClinGen gnomAD |
|
|
rs747973790 CA5653306 |
549 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378211409 rs1164251042 |
551 | C>Y | No |
ClinGen TOPMed |
|
|
rs150922430 CA212964194 |
555 | L>P | No |
ClinGen ESP |
|
|
rs1316029826 CA378211442 |
556 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747092610 CA5653309 |
557 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368187977 CA378211480 |
562 | E>A | No |
ClinGen gnomAD |
|
|
CA378211484 rs1232981894 |
562 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771330223 CA212964222 |
563 | D>E | No |
ClinGen gnomAD |
|
|
rs770025210 RCV000658220 CA5653312 |
571 | A>V | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs1446585289 CA378211564 |
574 | F>S | No |
ClinGen gnomAD |
|
|
CA378211870 rs1393601326 |
579 | A>T | No |
ClinGen gnomAD |
|
|
rs1327397109 CA378211873 |
579 | A>V | No |
ClinGen gnomAD |
|
|
CA378211898 rs1335733548 |
582 | E>D | No |
ClinGen gnomAD |
|
|
CA5653339 rs758207715 |
586 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1064797150 CA16621609 RCV000488219 |
590 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5653342 rs757207726 |
592 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1024427127 CA212965338 |
595 | V>I | No |
ClinGen TOPMed |
|
|
rs1254938186 CA378211990 |
597 | G>R | No |
ClinGen TOPMed |
|
|
rs756179376 CA5653345 |
598 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5653347 rs141315771 |
601 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5653348 rs768972579 |
604 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5653349 rs551656499 |
606 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748514733 CA5653350 |
608 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA378212066 rs1274226715 |
609 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 610 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337054015 CA378212097 |
613 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1315107575 CA378212094 |
613 | D>G | No |
ClinGen gnomAD |
|
|
rs758995089 CA5653352 |
613 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653353 rs764752550 |
615 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1279054541 CA378212432 |
618 | P>A | No |
ClinGen gnomAD |
|
|
rs974370773 CA212965382 |
621 | F>Y | No |
ClinGen TOPMed |
|
|
rs1300611170 CA378212475 |
622 | N>H | No |
ClinGen TOPMed |
|
|
CA212965383 rs913331026 |
623 | K>R | No |
ClinGen TOPMed |
|
|
rs757018348 CA5653359 |
628 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs62626293 CA5653361 CA378212616 VAR_062269 |
634 | N>K | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1489657518 CA378212621 |
635 | K>E | No |
ClinGen gnomAD |
|
|
CA378212640 rs1191762310 |
636 | A>V | No |
ClinGen gnomAD |
|
|
CA5653364 rs575489870 |
637 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575489870 CA5653363 |
637 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755985090 CA5653362 |
637 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779222579 CA5653366 |
638 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 638 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 640 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378212702 rs1364270759 |
642 | K>N | No |
ClinGen gnomAD |
|
|
RCV001310573 CA5653368 rs748463127 |
642 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs542793145 CA5653369 |
647 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5653370 rs190487176 |
648 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5653371 rs747597649 |
650 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267602340 CA212965419 |
652 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775046032 CA5653373 |
653 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378212783 rs762436636 |
655 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA378212782 rs762436636 |
655 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA378212779 rs1217058174 |
655 | G>S | No |
ClinGen gnomAD |
|
|
CA5653374 rs762436636 |
655 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA212965443 rs1055355481 |
656 | K>R | No |
ClinGen Ensembl |
|
|
rs944443717 CA212965447 |
657 | K>T | No |
ClinGen TOPMed |
|
|
CA212965456 rs868535097 |
658 | G>R | No |
ClinGen Ensembl |
|
|
rs571312130 CA5653377 |
660 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA378212818 rs1384180531 |
661 | T>I | No |
ClinGen gnomAD |
|
|
rs1435664441 CA378212820 |
662 | Q>E | No |
ClinGen gnomAD |
|
|
rs1454226423 CA378212825 |
662 | Q>H | No |
ClinGen gnomAD |
|
|
rs766409426 CA5653380 |
663 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1347343587 CA378212831 |
663 | N>I | No |
ClinGen gnomAD |
|
|
CA378212859 rs1380635403 |
667 | C>* | No |
ClinGen gnomAD |
|
|
CA212965509 rs1013913162 |
667 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5653383 rs374146818 |
667 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370070183 CA378212865 |
668 | S>L | No |
ClinGen gnomAD |
|
|
CA5653384 rs752911053 |
668 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5653385 rs758523933 |
670 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5653386 rs778236767 |
670 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5653387 rs747328996 |
671 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378212882 rs747328996 |
671 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378212878 rs1314941356 |
671 | A>T | No |
ClinGen gnomAD |
|
|
CA321253 RCV001853170 rs199583659 RCV000196845 |
672 | P>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 673 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781620751 CA5653388 |
673 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1468393473 CA378212901 |
675 | D>G | No |
ClinGen gnomAD |
|
|
rs758267849 CA378212899 |
675 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758267849 CA5653391 |
675 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758267849 CA5653390 |
675 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761569674 CA5653392 |
676 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891782757 CA212965549 |
677 | P>A | No |
ClinGen TOPMed |
|
|
CA5653393 rs771621115 |
681 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1409392835 CA378212939 |
681 | K>R | No |
ClinGen TOPMed |
|
|
CA378212946 rs1160844253 |
682 | R>C | No |
ClinGen TOPMed |
|
|
CA5653395 rs182559752 |
682 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182559752 CA5653394 |
682 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378212955 rs1590025434 |
684 | K>T | No |
ClinGen Ensembl |
|
|
rs754165856 CA5653397 |
685 | K>E | No |
ClinGen ExAC gnomAD |
3 associated diseases with Q96RR1
[MIM: 609286]: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:12163192, ECO:0000269|PubMed:12921794, ECO:0000269|PubMed:15668446, ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:17614277, ECO:0000269|PubMed:18396044, ECO:0000269|PubMed:18575922, ECO:0000269|PubMed:19353676, ECO:0000269|PubMed:19428252, ECO:0000269|PubMed:20479361, ECO:0000269|PubMed:20880070}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 271245]: Mitochondrial DNA depletion syndrome 7 (MTDPS7)
A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. {ECO:0000269|PubMed:16135556, ECO:0000269|PubMed:17722119, ECO:0000269|PubMed:17921179, ECO:0000269|PubMed:19853444, ECO:0000269|PubMed:22353293}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616138]: Perrault syndrome 5 (PRLTS5)
A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:25355836}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:12163192, ECO:0000269|PubMed:12921794, ECO:0000269|PubMed:15668446, ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:17614277, ECO:0000269|PubMed:18396044, ECO:0000269|PubMed:18575922, ECO:0000269|PubMed:19353676, ECO:0000269|PubMed:19428252, ECO:0000269|PubMed:20479361, ECO:0000269|PubMed:20880070}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. {ECO:0000269|PubMed:16135556, ECO:0000269|PubMed:17722119, ECO:0000269|PubMed:17921179, ECO:0000269|PubMed:19853444, ECO:0000269|PubMed:22353293}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:25355836}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.2.3 | Enzymes altering nucleic acid conformation |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-3' DNA helicase activity | Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| identical protein binding | Binding to an identical protein or proteins. |
| protease binding | Binding to a protease or a peptidase. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to glucose 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 glucose stimulus. |
| 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. |
| mitochondrial DNA replication | The process in which new strands of DNA are synthesized in the mitochondrion. |
| mitochondrial transcription | The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWVLLRSGYP | LRILLPLRGE | WMGRRGLPRN | LAPGPPRRRY | RKETLQALDM | PVLPVTATEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RQYLRGHGIP | FQDGHSCLRA | LSPFAESSQL | KGQTGVTTSF | SLFIDKTTGH | FLCMTSLAEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SWEDFQASVE | GRGDGAREGF | LLSKAPEFED | SEEVRRIWNR | AIPLWELPDQ | EEVQLADTMF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLTKVTDDTL | KRFSVRYLRP | ARSLVFPWFS | PGGSGLRGLK | LLEAKCQGDG | VSYEETTIPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSAYHNLFGL | PLISRRDAEV | VLTSRELDSL | ALNQSTGLPT | LTLPRGTTCL | PPALLPYLEQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FRRIVFWLGD | DLRSWEAAKL | FARKLNPKRC | FLVRPGDQQP | RPLEALNGGF | NLSRILRTAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAWHKSIVSF | RQLREEVLGE | LSNVEQAAGL | RWSRFPDLNR | ILKGHRKGEL | TVFTGPTGSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KTTFISEYAL | DLCSQGVNTL | WGSFEISNVR | LARVMLTQFA | EGRLEDQLDK | YDHWADRFED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LPLYFMTFHG | QQSIRTVIDT | MQHAVYVYDI | CHVIIDNLQF | MMGHEQLSTD | RIAAQDYIIG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VFRKFATDNN | CHVTLVIHPR | KEDDDKELQT | ASIFGSAKAS | QEADNVLILQ | DRKLVTGPGK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RYLQVSKNRF | DGDVGVFPLE | FNKNSLTFSI | PPKNKARLKK | IKDDTGPVAK | KPSSGKKGAT |
| 670 | 680 | ||||
| TQNSEICSGQ | APTPDQPDTS | KRSK |