Q13614
PR
Gene name |
MTMR2 |
Protein name |
Myotubularin-related protein 2 |
Names |
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8898 |
EC number |
3.1.3.64: Phosphoric monoester hydrolases |
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
511 variants for Q13614
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000364809 RCV000242172 CA6240501 RCV001711571 RCV000576747 RCV001173025 rs3824874 VAR_047255 |
3 | K>T | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062030 rs1867038226 |
4 | S>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771823531 RCV001069613 CA6240500 |
4 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA334066 RCV002390399 RCV000431441 RCV000167965 rs778430688 |
5 | S>W | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001110931 RCV002413638 RCV000992370 rs377006678 RCV000535242 CA6240497 RCV001172717 |
6 | S>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1867037031 RCV001035590 |
7 | C>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756912172 CA6240495 RCV001222881 RCV002447123 |
8 | E>K | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000985066 rs1591060788 |
10 | L>missing | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685806 rs755619139 CA6240492 |
12 | S>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA382416262 RCV001231758 rs1177699275 |
18 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001706241 RCV001062024 RCV001172710 RCV000712333 rs574213477 CA6240489 |
19 | P>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1225667280 CA382416178 RCV001215014 |
23 | D>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001063119 RCV002411581 CA382416063 rs1295900396 |
26 | S>F | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000805825 RCV002418038 RCV001110930 rs879253940 CA10584393 RCV000236101 |
27 | S>T | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1591025020 RCV000803961 CA382406521 |
32 | H>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146004831 RCV001086624 RCV000712332 CA337568 |
44 | V>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372095826 RCV001361718 RCV001172716 CA6240458 |
47 | S>P | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001718624 rs141498429 RCV002411198 RCV000458824 RCV000506336 |
62 | R>missing | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756405288 CA6240425 RCV000806455 |
66 | E>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000285112 CA10639754 rs886048772 |
71 | A>V | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338638 CA6240420 rs377327553 |
77 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750344055 RCV002533685 RCV000703462 CA6240418 |
78 | L>M | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757664332 RCV001220480 CA226614820 |
83 | N>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6240381 RCV001351968 rs147341114 RCV002547546 |
90 | D>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055540 CA6240378 rs769020850 |
94 | I>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001110166 rs1864455547 |
97 | F>I | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6240374 rs370701984 RCV000868021 |
100 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA382430224 RCV000793186 rs1340382592 |
101 | V>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002467477 CA226612363 rs115506357 |
102 | R>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001201504 RCV000790128 CA382430191 rs1590997541 |
103 | G>E | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1590997478 RCV000790127 |
109 | N>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1322357085 CA382430093 RCV000815517 |
109 | N>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002458246 rs752402777 RCV000694260 CA6240368 |
117 | M>T | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1864451374 RCV001047478 |
118 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142774695 CA226612327 RCV000654136 RCV001766424 |
119 | R>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000178305 RCV001213166 rs759086106 CA245355 |
119 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001044445 rs1864439728 |
135 | V>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002325316 rs1555065024 CA382429539 RCV000654075 |
136 | E>D | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1864438088 RCV001214772 |
144 | R>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA382429414 rs1555065007 RCV000654096 |
144 | R>Q | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001229982 rs1864437836 |
145 | G>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800548 rs1590997023 |
152 | E>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1358449243 RCV000654085 |
154 | V>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1864436629 RCV001255959 |
155 | C>R | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224954 rs1286568485 CA382428692 |
160 | N>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1419183415 RCV001219331 CA382428526 |
170 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1864295304 RCV001345897 |
175 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527863 rs142155860 RCV001094090 CA6240302 |
183 | A>S | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs186380748 RCV001172706 RCV000992371 CA6240286 RCV000654128 RCV001110165 RCV002358889 |
202 | P>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs967619161 RCV000818315 CA226608925 |
209 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003153992 RCV001322181 CA6240285 RCV002545104 rs753316100 |
210 | D>G | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1863982879 RCV001035907 |
240 | Y>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068894 rs540766159 CA6240238 |
241 | P>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000234178 rs878855016 |
252 | D>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395668 rs753939570 RCV001313404 CA6240235 |
253 | E>D | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001858734 rs769429967 RCV000991442 |
256 | K>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA382425698 rs1590984978 RCV000821996 |
264 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6240231 rs775237206 RCV001327701 |
266 | R>H | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587779385 CA270955 RCV000204113 RCV000144882 |
270 | L>F | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000006611 CA340529 rs121434403 |
276 | E>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000818904 CA6240181 rs779257949 |
277 | S>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10582955 rs757563721 RCV000228911 |
278 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1590983942 RCV000790131 |
281 | I>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172711 CA226602180 RCV001369953 rs887196115 |
281 | I>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA382425568 VAR_047947 rs1590983932 RCV000790130 |
283 | R>W | Charcot-Marie-Tooth disease CMT4B1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001065553 rs1863944217 |
292 | S>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000844882 CA382425486 rs1171462240 |
295 | R>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000712334 RCV000542459 RCV001172712 RCV002377180 RCV001114205 CA6240177 rs200898934 |
298 | E>D | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6240175 RCV002372714 RCV000994701 rs540785347 |
306 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000197687 rs863224516 |
345 | N>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226600928 RCV002453928 RCV000844881 rs776757548 |
364 | R>* | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4B1 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM382660 RCV002305602 RCV001347196 COSM382659 rs768976966 CA6240103 |
364 | R>Q | lung Charcot-Marie-Tooth disease type 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6240102 RCV000807577 rs747178197 |
367 | K>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002424752 CA6240101 RCV001415226 rs200083635 RCV000757482 |
369 | I>T | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778906960 CA6240098 RCV000805054 |
373 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6240097 RCV000803363 rs114883605 |
374 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555060024 RCV000664231 CA382422946 |
388 | W>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555060014 RCV000558272 CA382422846 |
392 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707436 CA226599194 rs145714734 |
397 | A>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1863726953 RCV001237178 |
407 | E>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236746 rs1863723947 |
414 | V>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA253823 RCV000814403 RCV000006609 rs121434402 |
426 | Q>* | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1590978311 RCV000819386 CA382420663 |
443 | R>Q | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001172709 RCV000234705 rs146572467 RCV002381752 CA6240028 RCV000724937 RCV001094211 |
446 | E>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769693714 RCV000386795 CA6240027 |
447 | V>I | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000790133 rs1590978277 CA382420528 |
448 | L>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002381876 CA6240025 rs776520645 RCV000823343 |
449 | V>M | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1177373744 RCV001214495 |
455 | S>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA382420294 RCV000698103 rs1565348037 |
455 | S>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1258041 rs1590978234 COSM1258040 RCV000799840 CA382420310 |
455 | S>R | Charcot-Marie-Tooth disease type 4 oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000228469 CA6239997 RCV000516211 RCV002392712 rs142460913 RCV001172715 |
468 | D>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000799088 rs1193305699 CA382419299 |
471 | H>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000006612 rs121434404 CA253826 |
482 | Q>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000332326 CA10640529 rs886048771 |
484 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1590974596 RCV000801400 |
485 | D>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1358004 rs752626893 RCV001337294 CA6239959 COSM1358003 RCV000517309 |
497 | A>T | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1590971080 RCV000844879 |
498 | F>missing | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001173027 RCV001706458 RCV000790244 rs61735578 CA6239956 RCV000465272 RCV000576414 |
502 | E>Q | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1221811087 RCV000690123 CA382416922 RCV002388226 |
504 | F>S | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA348170 RCV000203870 rs769280444 |
508 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000790129 rs1590970977 |
512 | L>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270134 rs1555057316 RCV000465990 |
514 | S>missing | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654062 rs1014132718 CA226594600 |
518 | G>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1565344022 RCV000705196 CA382416561 |
521 | L>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203117 RCV003163530 rs1863365049 |
531 | E>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397318 CA6239909 RCV000654088 rs781368440 |
544 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000174782 rs558018 VAR_047256 RCV001094173 RCV000756356 RCV000465828 CA201173 |
545 | N>S | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376530848 RCV001247074 CA6239906 |
546 | S>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6239907 rs376530848 RCV001201942 |
546 | S>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001044707 rs1863277955 |
551 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001855893 CA6239905 RCV000757483 rs750110066 RCV002388374 |
554 | P>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1863269909 RCV002402583 RCV001204128 |
575 | L>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1863269109 RCV001283803 |
579 | Y>missing | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172726 RCV002397320 rs149476960 RCV000654177 RCV001771907 RCV001803923 CA6239891 |
581 | I>V | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA382413858 rs1590968942 RCV000790132 |
583 | W>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61735576 CA6239887 RCV000654235 RCV002397322 |
586 | R>Q | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1863268067 RCV001042365 |
588 | K>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761540 rs1565342506 CA382413679 |
590 | Q>* | Charcot-Marie-Tooth disease type 4B1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6239852 rs749010549 RCV001297812 |
592 | P>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000470802 RCV001288251 RCV000608107 rs76784113 CA6239849 RCV001094172 RCV000790126 |
602 | A>G | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001203118 CA6239848 rs138746296 RCV003163531 |
604 | R>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071540 rs886048770 |
615 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886048770 RCV000654090 RCV001094171 CA10631767 RCV001537496 |
615 | Q>E | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769866540 RCV001231912 |
617 | E>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818889 rs369804894 CA226591057 |
617 | E>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA382412621 RCV000821390 rs1392067749 |
618 | I>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6239839 rs116750638 RCV001172718 RCV001084287 RCV001112850 RCV000219297 |
619 | S>P | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002413639 rs753364428 CA6239836 RCV000550000 |
621 | R>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6239835 rs371925152 RCV001060742 |
621 | R>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002411197 RCV000859232 RCV001172721 rs371925152 CA6239834 RCV000528284 RCV001094170 |
621 | R>Q | Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs770755992 RCV001235524 CA6239833 |
623 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000699857 rs751292488 |
629 | A>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002413640 rs923973985 CA226590942 RCV000533890 |
634 | Q>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000818115 RCV002413408 CA382412386 RCV000523478 rs1555056657 |
637 | T>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406477 RCV000654126 RCV000994700 rs779740723 |
639 | V>missing | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1356220463 RCV001172714 |
639 | V>F | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226613506 rs868148400 |
2 | E>* | No |
ClinGen gnomAD |
|
|
rs1201376666 CA382416704 |
2 | E>D | No |
ClinGen gnomAD |
|
|
CA382416724 rs868148400 |
2 | E>K | No |
ClinGen gnomAD |
|
|
RCV000790240 rs3824874 |
3 | K>= | No |
ClinVar dbSNP |
|
|
CA6240502 rs3824874 |
3 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382416658 rs771823531 |
4 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382416617 rs1275277634 |
6 | S>I | No |
ClinGen gnomAD |
|
|
CA382416614 rs1275277634 |
6 | S>N | No |
ClinGen gnomAD |
|
|
rs1212995397 CA382416611 |
6 | S>R | No |
ClinGen gnomAD |
|
|
rs756912172 CA382416588 |
8 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382416589 rs756912172 |
8 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407177717 CA382416516 |
9 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382416505 rs1344100328 |
10 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748901232 CA382416478 |
11 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs886126776 CA382416485 |
11 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748901232 CA6240494 |
11 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA226613378 rs886126776 |
11 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752123233 CA6240491 |
14 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA382416371 rs1429586732 |
14 | P>L | No |
ClinGen gnomAD |
|
|
rs1479337440 CA382416310 |
16 | A>E | No |
ClinGen gnomAD |
|
|
CA382416286 rs1266517172 |
17 | A>G | No |
ClinGen gnomAD |
|
|
CA226613337 rs952672162 |
20 | P>L | No |
ClinGen Ensembl |
|
|
rs1342656532 CA382416207 |
21 | S>G | No |
ClinGen TOPMed |
|
|
rs750766331 CA382416201 |
21 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750766331 CA6240488 |
21 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382416188 rs765423295 |
22 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765423295 CA6240487 |
22 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226613299 rs367549833 |
23 | D>G | No |
ClinGen Ensembl |
|
|
rs1321832414 CA382416116 |
24 | S>F | No |
ClinGen gnomAD |
|
|
rs1224801407 CA382416089 |
25 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA382416084 rs1591060668 |
26 | S>T | No |
ClinGen Ensembl |
|
|
CA476302027 rs1193420236 |
28 | A>E | No |
ClinGen gnomAD |
|
|
rs368041227 CA6240465 |
28 | A>T | No |
ClinGen ESP ExAC |
|
|
CA6240463 rs148594474 |
30 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748872681 CA6240462 |
31 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA226591407 rs568170529 COSM933628 |
34 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA382406419 rs1252915474 |
37 | V>A | No |
ClinGen gnomAD |
|
|
rs759550822 CA6240461 |
38 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315728174 CA382406394 |
39 | T>A | No |
ClinGen gnomAD |
|
|
CA382406385 rs1277283488 |
39 | T>I | No |
ClinGen gnomAD |
|
|
CA226591400 rs1028653344 |
41 | S>L | No |
ClinGen TOPMed |
|
|
rs774089287 CA6240460 |
42 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375382954 CA6240459 |
44 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs928012422 CA226591369 |
46 | S>* | No |
ClinGen Ensembl |
|
|
CA6240457 rs769537053 |
48 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382406246 rs1170327910 |
49 | S>C | No |
ClinGen gnomAD |
|
|
rs149422901 CA6240455 |
52 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 54 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779277108 CA6240452 |
55 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6240451 rs137906078 |
57 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6240450 rs754171738 |
59 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6240449 rs528638298 |
62 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571451353 CA6240424 |
67 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382430626 rs1351226649 |
68 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382430573 rs1237939737 |
75 | E>Q | No |
ClinGen gnomAD |
|
|
rs546756365 CA6240421 |
76 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6240422 rs546756365 |
76 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546756365 CA226614852 |
76 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA226614851 rs377327553 |
77 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382430561 rs1308668822 |
77 | P>S | No |
ClinGen gnomAD |
|
|
rs750344055 CA6240419 |
78 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6240416 rs761502860 |
83 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA226614813 rs962065059 |
85 | K>E | No |
ClinGen TOPMed |
|
|
CA6240415 rs776415656 |
87 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA382430365 rs1184835554 |
93 | Y>H | No |
ClinGen gnomAD |
|
|
rs776878457 CA6240379 |
94 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776878457 CA226612412 |
94 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA226612397 rs955541481 |
95 | C>W | No |
ClinGen TOPMed |
|
|
CA6240377 rs747198133 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780362876 CA6240376 |
97 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1281491852 CA382430286 |
98 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382430181 rs1340390391 |
104 | T>S | No |
ClinGen gnomAD |
|
|
CA226612352 rs1055309293 |
106 | T>I | No |
ClinGen Ensembl |
|
|
rs1439299849 CA382430141 |
107 | V>L | No |
ClinGen gnomAD |
|
|
CA382430120 rs1214822130 |
108 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755882758 CA6240369 |
113 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752402777 CA382429949 |
117 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382429945 rs752402777 |
117 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142774695 CA6240367 |
119 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6240338 rs115150701 |
121 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6240339 rs115150701 |
121 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780871514 CA6240340 |
121 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590997136 CA382429663 |
130 | G>S | No |
ClinGen Ensembl |
|
|
rs1310887302 CA382429631 |
132 | I>V | No |
ClinGen gnomAD |
|
|
rs1303698446 CA382429606 |
133 | N>S | No |
ClinGen TOPMed |
|
|
CA226612036 rs951220118 |
135 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382429509 rs1590997088 |
138 | I>F | No |
ClinGen Ensembl |
|
|
rs764634867 CA6240333 |
140 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA382429450 rs1300170808 |
141 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382429347 rs1291382402 |
154 | V>A | No |
ClinGen Ensembl |
|
|
rs1464362553 CA382429351 |
154 | V>M | No |
ClinGen gnomAD |
|
|
rs138722981 CA6240310 |
157 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764606843 CA6240309 |
158 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456217477 CA382428679 |
161 | L>V | No |
ClinGen gnomAD |
|
|
CA6240308 rs756723587 |
162 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382428616 rs1360315392 |
165 | H>P | No |
ClinGen TOPMed |
|
|
rs1358578773 CA382428619 |
165 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 169 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6240305 rs768008435 |
170 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422329979 CA382428431 |
176 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1055618502 CA226609408 |
178 | N>T | No |
ClinGen TOPMed |
|
|
CA226609385 rs993288884 |
182 | Y>* | No |
ClinGen gnomAD |
|
|
CA6240301 rs577896427 |
185 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382428209 rs1266739270 |
188 | N>S | No |
ClinGen gnomAD |
|
|
rs1258314907 CA382428058 |
191 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382428038 rs1342628870 |
192 | L>F | No |
ClinGen gnomAD |
|
|
CA6240289 rs745474361 |
200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6240287 rs778490228 |
201 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332787954 CA382427818 |
205 | G>E | No |
ClinGen gnomAD |
|
|
CA226608891 rs199736817 |
210 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1433784241 CA382427711 |
211 | P>L | No |
ClinGen gnomAD |
|
|
CA382427722 rs1467443648 |
211 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA226608886 rs749436945 |
215 | Y>N | No |
ClinGen Ensembl |
|
|
CA382425978 rs1171328964 |
222 | N>S | No |
ClinGen gnomAD |
|
|
CA6240245 rs770633107 |
224 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755530755 CA6240242 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1437398299 CA382425920 |
230 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6240241 rs751970177 |
233 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs758629389 CA6240240 |
233 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758629389 CA6240239 |
233 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113346250 CA226602908 |
235 | E>G | No |
ClinGen Ensembl |
|
|
rs540766159 CA382425846 |
241 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs927099870 CA226602900 |
249 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1064793195 RCV000484689 CA16619418 |
250 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6240236 rs761918973 |
251 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286776088 CA382425781 |
252 | D>N | No |
ClinGen gnomAD |
|
|
rs764122689 CA6240234 |
256 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1351708033 CA382425749 |
256 | K>R | No |
ClinGen gnomAD |
|
|
CA382425745 rs1449110234 |
257 | R>G | No |
ClinGen gnomAD |
|
|
CA382425742 rs1342601072 |
257 | R>T | No |
ClinGen gnomAD |
|
|
CA226602845 rs980876414 |
260 | S>F | No |
ClinGen TOPMed |
|
|
rs775237206 CA6240232 |
266 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590984960 CA382425675 |
268 | P>T | No |
ClinGen Ensembl |
|
|
rs1001486609 CA226602250 |
269 | V>I | No |
ClinGen TOPMed |
|
|
rs1565351447 CA382425653 |
270 | L>I | No |
ClinGen Ensembl |
|
|
rs1425586980 CA382425642 |
271 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241540080 CA382425620 |
274 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6240182 rs746336999 |
275 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382425612 rs121434403 |
276 | E>K | No |
ClinGen TOPMed |
|
|
rs749574997 CA6240179 |
278 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6240180 rs757563721 |
278 | Q>K | No |
ClinGen ExAC |
|
|
CA382425596 rs1288014798 |
278 | Q>R | No |
ClinGen gnomAD |
|
|
CA226602175 rs374629187 |
283 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
| TCGA novel | 284 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274853992 CA382425529 |
288 | M>I | No |
ClinGen gnomAD |
|
|
CA382425532 rs1361899788 |
288 | M>T | No |
ClinGen gnomAD |
|
|
CA226602170 rs370955430 |
291 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA6240178 rs777854770 |
295 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382425482 rs1324793477 COSM1605408 COSM1605409 |
296 | S>G | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 296 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324793477 CA382425483 |
296 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402167866 CA382425464 |
298 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382425438 rs1427811398 |
301 | K>N | No |
ClinGen gnomAD |
|
|
CA382425435 rs1204046416 |
302 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 302 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6240176 rs540785347 |
306 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6240174 rs754993979 |
307 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301578936 CA382425393 |
308 | D>Y | No |
ClinGen TOPMed |
|
|
rs1236971888 CA382425363 |
312 | Q>R | No |
ClinGen TOPMed |
|
|
CA382425354 rs1251291691 |
313 | S>F | No |
ClinGen gnomAD |
|
|
rs573425023 CA6240173 |
314 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6240171 rs762828462 |
316 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382425333 rs1207599323 |
316 | I>M | No |
ClinGen TOPMed |
|
|
rs750166451 CA6240170 |
317 | F>C | No |
ClinGen ExAC |
|
|
rs764763872 CA382425325 |
318 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279931614 CA382425315 |
318 | I>M | No |
ClinGen gnomAD |
|
|
CA382425316 rs1484953588 |
318 | I>T | No |
ClinGen TOPMed |
|
|
rs764763872 CA6240168 RCV000235773 |
318 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs761433068 CA6240167 |
320 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446998322 CA382425185 |
327 | A>T | No |
ClinGen gnomAD |
|
|
rs1378694236 CA382425177 |
327 | A>V | No |
ClinGen gnomAD |
|
|
CA6240116 rs750310119 |
332 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190367622 CA382424126 |
333 | K>E | No |
ClinGen TOPMed |
|
|
CA6240115 rs778587786 |
336 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1863859239 RCV001269759 |
337 | Y>* | No |
ClinVar dbSNP |
|
|
rs200384340 CA6240114 |
340 | E>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1218061957 COSM3810726 COSM3810727 CA382423977 |
340 | E>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6240113 rs753501286 |
341 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6240111 rs375607191 |
345 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752229074 CA6240110 |
347 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6240109 rs766977235 |
348 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763372169 CA6240108 |
348 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs766977235 CA382423759 |
348 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6240107 rs773707809 |
355 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs531510226 CA6240105 |
360 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6240104 rs776757548 |
364 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925169921 CA226600926 |
366 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382423402 rs1565350001 |
368 | E>K | No |
ClinGen Ensembl |
|
|
CA382423327 rs1259002116 |
372 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000790241 rs566204 |
377 | T>= | No |
ClinVar dbSNP |
|
|
CA6240096 rs749090978 |
377 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382423168 rs1278655952 |
379 | W>* | No |
ClinGen gnomAD |
|
|
rs1293439702 CA382423108 |
382 | N>K | No |
ClinGen gnomAD |
|
|
CA382423058 rs1203667416 |
384 | E>G | No |
ClinGen TOPMed |
|
|
CA226600818 rs988897482 |
384 | E>Q | No |
ClinGen Ensembl |
|
|
rs752277785 CA6240093 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382422904 rs1460110344 |
391 | H>N | No |
ClinGen gnomAD |
|
|
CA382422819 rs1394178846 |
393 | K>* | No |
ClinGen gnomAD |
|
|
rs527341607 CA6240092 |
393 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148890896 CA6240048 |
395 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229457572 CA382422502 |
395 | I>M | No |
ClinGen gnomAD |
|
|
CA6240047 rs774525225 |
395 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770852495 CA6240046 |
396 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145714734 CA382422492 |
397 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762894011 CA6240045 |
400 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6240044 rs773118782 |
402 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1377803550 CA382422461 |
403 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs972571750 CA226599193 |
407 | E>D | No |
ClinGen gnomAD |
|
|
CA6240043 rs769640482 |
407 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382422424 rs1273301459 |
408 | S>A | No |
ClinGen gnomAD |
|
|
CA6240041 rs780756016 |
409 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160054714 COSM933622 CA382422401 COSM933623 |
411 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1160054714 CA382422402 |
411 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 414 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757834677 CA6240038 |
417 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6240036 rs377452665 |
426 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377452665 CA6240035 |
426 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455694401 CA382421227 |
428 | T>I | No |
ClinGen gnomAD |
|
|
CA382421180 rs1293083454 |
430 | L>F | No |
ClinGen TOPMed |
|
|
rs1348845964 CA382421138 COSM1358006 COSM1358005 |
431 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1306530965 CA382421125 |
432 | M>V | No |
ClinGen TOPMed |
|
|
CA382421011 rs1291972460 |
434 | M>I | No |
ClinGen gnomAD |
|
|
rs374742138 CA226599103 |
434 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA382421048 rs1246003257 |
434 | M>V | No |
ClinGen gnomAD |
|
|
CA6240032 rs567520815 |
438 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382420843 rs1360581554 |
438 | Y>H | No |
ClinGen gnomAD |
|
|
rs371349038 CA226599076 |
439 | Y>* | No |
ClinGen Ensembl |
|
|
rs751677491 CA6240031 |
440 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA382420774 rs1383802560 |
440 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs141311831 CA6240029 |
445 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141311831 CA226599073 |
445 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6240026 rs776520645 |
449 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382420494 rs1263941266 |
450 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1417691745 CA382420478 |
451 | K>E | No |
ClinGen TOPMed |
|
|
CA382420339 rs1565348048 |
454 | L>I | No |
ClinGen Ensembl |
|
|
CA382420242 rs1445437024 |
456 | F>L | No |
ClinGen gnomAD |
|
|
rs1283810204 CA382420175 |
459 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA226599016 COSM169388 rs1023654455 |
459 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6240023 rs746686039 |
460 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382420097 rs1246895006 |
462 | L>P | No |
ClinGen gnomAD |
|
|
CA226596687 rs758574193 |
464 | V>I | No |
ClinGen Ensembl |
|
|
rs774006668 CA6239999 |
465 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs554424343 CA6239996 |
468 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6239995 rs202119906 |
474 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382419155 rs1235004963 |
477 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA382419154 rs1235004963 |
477 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 479 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433078596 CA382419016 |
483 | F>C | No |
ClinGen gnomAD |
|
|
rs1380507095 CA382419021 |
483 | F>L | No |
ClinGen TOPMed |
|
|
CA6239991 rs765313279 |
486 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6239987 rs753856182 |
489 | Q>* | No |
ClinGen ExAC |
|
|
CA382418777 rs1302229712 |
490 | M>I | No |
ClinGen gnomAD |
|
|
CA382418734 rs1343737399 |
492 | R>* | No |
ClinGen TOPMed |
|
|
rs1412906295 CA382417102 |
496 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1565344148 CA382417073 |
496 | T>I | No |
ClinGen Ensembl |
|
|
rs767480618 CA6239958 |
498 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs200892517 CA382416977 |
501 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200892517 CA6239957 |
501 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419080906 CA382416931 |
504 | F>L | No |
ClinGen gnomAD |
|
|
CA6239955 rs766105845 |
505 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6239954 rs762613780 |
506 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772625760 CA6239953 |
507 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA382416831 rs1258570359 |
510 | D>H | No |
ClinGen gnomAD |
|
|
CA382416819 rs1214719788 |
510 | D>V | No |
ClinGen gnomAD |
|
|
CA6239951 rs761100126 |
511 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs920704287 CA226594609 |
511 | H>R | No |
ClinGen Ensembl |
|
|
CA382416751 rs1274874414 |
514 | S>N | No |
ClinGen gnomAD |
|
|
CA382416731 rs1231332878 |
515 | C>Y | No |
ClinGen gnomAD |
|
|
CA382416575 rs1382833195 |
520 | F>L | No |
ClinGen gnomAD |
|
|
rs1287300971 CA382416550 |
522 | C>G | No |
ClinGen gnomAD |
|
|
rs1453377394 CA382416455 |
524 | S>N | No |
ClinGen gnomAD |
|
|
CA382416404 rs1395611163 |
526 | Q>R | No |
ClinGen gnomAD |
|
|
rs746210433 CA6239948 |
527 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA382416376 rs1184465893 |
527 | Q>R | No |
ClinGen TOPMed |
|
|
CA6239947 rs779201148 |
528 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA382416293 rs1417792101 |
529 | G>* | No |
ClinGen gnomAD |
|
|
CA382415120 rs1565342809 |
532 | N>T | No |
ClinGen Ensembl |
|
|
rs749533331 CA6239913 |
533 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382415112 rs1369432114 |
533 | L>P | No |
ClinGen gnomAD |
|
|
rs894019754 CA226591758 |
535 | K>N | No |
ClinGen TOPMed |
|
|
rs574241508 CA6239912 |
535 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1168735143 CA382415068 |
536 | R>S | No |
ClinGen gnomAD |
|
|
rs1053053925 CA226591744 |
537 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762227896 CA226591739 |
542 | S>P | No |
ClinGen Ensembl |
|
|
CA226591737 rs935486210 |
543 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 544 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931675214 CA382414897 |
547 | Q>H | No |
ClinGen TOPMed |
|
|
rs1228057463 CA382414717 |
552 | T>I | No |
ClinGen TOPMed |
|
|
rs1565342705 CA382414706 |
553 | N>D | No |
ClinGen Ensembl |
|
|
rs147170889 CA6239903 |
556 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed |
|
CA6239904 rs764911369 |
556 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6239900 rs763529973 |
557 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753377983 CA6239901 |
557 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760050731 CA6239899 |
558 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6239898 rs774911582 |
559 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453443446 CA382414553 |
560 | S>A | No |
ClinGen gnomAD |
|
|
rs766722493 CA382414548 |
560 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6239897 rs766722493 |
560 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1181723967 CA382414526 |
561 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382414479 COSM545894 rs1183728500 COSM545893 |
563 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs200717440 CA6239896 |
565 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211595716 CA382414371 |
568 | A>G | No |
ClinGen gnomAD |
|
|
CA6239894 rs770074296 |
570 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs748336978 CA6239893 |
571 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA382414296 rs1344622348 |
571 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 571 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280440631 CA382414192 |
574 | E>* | No |
ClinGen gnomAD |
|
|
CA226591632 rs771548803 |
574 | E>G | No |
ClinGen gnomAD |
|
|
CA382414114 rs1423812677 COSM1662875 COSM1662874 |
576 | W>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1334421358 CA382414089 |
577 | V>M | No |
ClinGen gnomAD |
|
|
CA6239892 rs149476960 |
581 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415989261 CA382413797 |
585 | P>L | No |
ClinGen gnomAD |
|
|
CA6239889 rs61735577 |
586 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382413669 rs1407173800 |
590 | Q>P | No |
ClinGen TOPMed |
|
|
rs777376551 CA6239851 |
592 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA226591112 rs1045921196 |
594 | H>N | No |
ClinGen Ensembl |
|
|
CA226591108 rs778356037 |
595 | N>K | No |
ClinGen Ensembl |
|
|
CA382413177 rs1162654666 |
597 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382413189 rs1415604851 |
597 | Y>H | No |
ClinGen gnomAD |
|
|
rs1224124634 CA382413018 |
600 | L>F | No |
ClinGen TOPMed |
|
|
CA382412995 rs1285458819 |
601 | L>F | No |
ClinGen TOPMed |
|
|
rs755674832 CA6239850 |
602 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA382412940 rs76784113 |
602 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750836112 COSM933619 CA6239846 COSM933618 |
604 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247722040 CA382412838 |
606 | E>A | No |
ClinGen gnomAD |
|
|
CA6239845 rs765751970 |
607 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382412794 rs1337479629 |
608 | Q>R | No |
ClinGen gnomAD |
|
|
CA382412760 rs1228294435 |
609 | K>N | No |
ClinGen gnomAD |
|
|
CA6239844 rs762262045 |
609 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1164720720 CA382412757 |
610 | K>E | No |
ClinGen gnomAD |
|
|
rs1271455669 CA382412732 |
611 | V>A | No |
ClinGen gnomAD |
|
|
rs1339450885 CA382412741 |
611 | V>I | No |
ClinGen gnomAD |
|
|
CA382412714 rs1428172081 |
612 | E>D | No |
ClinGen gnomAD |
|
|
rs1406421115 CA382412716 |
612 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754152845 CA6239841 |
614 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA382412606 rs116750638 |
619 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775643975 CA6239837 |
620 | N>Y | No |
ClinGen ExAC |
|
|
CA382412566 rs1447825118 |
623 | T>I | No |
ClinGen gnomAD |
|
|
rs1409158602 CA382412552 |
624 | S>L | No |
ClinGen TOPMed |
|
|
CA6239831 rs749063948 |
627 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6239828 rs747684213 |
628 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769463935 CA6239829 |
628 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6239826 rs958314000 |
629 | A>D | No |
ClinGen TOPMed |
|
|
rs1274420283 CA382412462 |
631 | S>C | No |
ClinGen gnomAD |
|
|
rs532885622 CA6239822 |
633 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751004861 CA382412430 |
634 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs751004861 CA6239821 |
634 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA382412422 rs1274057698 |
635 | C>R | No |
ClinGen gnomAD |
|
|
rs1442750288 CA382412399 |
636 | V>D | No |
ClinGen gnomAD |
|
|
rs1405649143 CA382412406 |
636 | V>L | No |
ClinGen TOPMed |
|
|
CA382412377 rs1356220463 |
639 | V>I | No |
ClinGen gnomAD |
|
|
rs1427868848 CA382412355 |
640 | Q>* | No |
ClinGen gnomAD |
|
|
CA226590933 rs911695795 |
641 | T>A | No |
ClinGen Ensembl |
|
|
rs1370106214 CA382412336 |
641 | T>S | No |
ClinGen gnomAD |
|
|
rs1174482625 CA382412319 |
643 | V>L | No |
ClinGen gnomAD |
|
|
rs1423415418 CA382412305 |
644 | V>S | No |
ClinGen gnomAD |
1 associated diseases with Q13614
[MIM: 601382]: Charcot-Marie-Tooth disease 4B1 (CMT4B1)
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
Without disease ID
- A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
1 regional properties for Q13614
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EGF-like domain | 34 - 72 | IPR000742 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.64 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| vacuolar membrane | The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+. |
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
| protein tyrosine/serine/threonine phosphatase activity | Catalysis of the reactions: protein serine + H2O = protein serine + phosphate; protein threonine phosphate + H2O = protein threonine + phosphate; and protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| dendritic spine maintenance | The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission. |
| inositol phosphate dephosphorylation | The process of removing a phosphate group from any mono- or polyphosphorylated inositol. |
| myelin assembly | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system. |
| negative regulation of endocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. |
| negative regulation of excitatory postsynaptic potential | Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
| negative regulation of myelination | Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| negative regulation of receptor catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of receptor catabolic process. |
| negative regulation of receptor internalization | Any process that stops, prevents, or reduces the frequency, rate or extent of receptor internalization. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| positive regulation of early endosome to late endosome transport | Any process that activates or increases the frequency, rate or extent of early endosome to late endosome transport. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| regulation of phosphatidylinositol dephosphorylation | Any process that modulates the frequency, rate or extent of the chemical reaction involving the removal of one or more phosphate groups from a phosphatidylinositol. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86WG5 | SBF2 | Myotubularin-related protein 13 | Homo sapiens (Human) | PR |
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q13613 | MTMR1 | Myotubularin-related protein 1 | Homo sapiens (Human) | PR |
| Q13496 | MTM1 | Myotubularin | Homo sapiens (Human) | PR |
| Q96QG7 | MTMR9 | Myotubularin-related protein 9 | Homo sapiens (Human) | PR |
| Q9Y217 | MTMR6 | Myotubularin-related protein 6 | Homo sapiens (Human) | PR |
| Q9Y216 | MTMR7 | Myotubularin-related protein 7 | Homo sapiens (Human) | PR |
| Q9Z2D1 | Mtmr2 | Myotubularin-related protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKSSSCESL | GSQPAAARPP | SVDSLSSAST | SHSENSVHTK | SASVVSSDSI | STSADNFSPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRVLRESNKL | AEMEEPPLLP | GENIKDMAKD | VTYICPFTGA | VRGTLTVTNY | RLYFKSMERD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPFVLDASLG | VINRVEKIGG | ASSRGENSYG | LETVCKDIRN | LRFAHKPEGR | TRRSIFENLM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KYAFPVSNNL | PLFAFEYKEV | FPENGWKLYD | PLLEYRRQGI | PNESWRITKI | NERYELCDTY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PALLVVPANI | PDEELKRVAS | FRSRGRIPVL | SWIHPESQAT | ITRCSQPMVG | VSGKRSKEDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KYLQAIMDSN | AQSHKIFIFD | ARPSVNAVAN | KAKGGGYESE | DAYQNAELVF | LDIHNIHVMR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESLRKLKEIV | YPNIEETHWL | SNLESTHWLE | HIKLILAGAL | RIADKVESGK | TSVVVHCSDG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WDRTAQLTSL | AMLMLDGYYR | TIRGFEVLVE | KEWLSFGHRF | QLRVGHGDKN | HADADRSPVF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQFIDCVWQM | TRQFPTAFEF | NEYFLITILD | HLYSCLFGTF | LCNSEQQRGK | ENLPKRTVSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WSYINSQLED | FTNPLYGSYS | NHVLYPVASM | RHLELWVGYY | IRWNPRMKPQ | EPIHNRYKEL |
| 610 | 620 | 630 | 640 | ||
| LAKRAELQKK | VEELQREISN | RSTSSSERAS | SPAQCVTPVQ | TVV |