Q13424
PR
Gene name |
SNTA1 (SNT1) |
Protein name |
Alpha-1-syntrophin |
Names |
59 kDa dystrophin-associated protein A1 acidic component 1, Pro-TGF-alpha cytoplasmic domain-interacting protein 1, TACIP1, Syntrophin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6640 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q13424
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13424-F1 | Predicted | AlphaFoldDB |
428 variants for Q13424
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408634808 RCV002448568 RCV000756674 rs1216164802 RCV001050099 |
8 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10587924 RCV001264842 RCV001053893 RCV000251865 RCV000523848 rs886039012 |
9 | R>C | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786205846 RCV000458749 RCV002485082 RCV000246049 RCV000171115 RCV001804901 CA302321 |
14 | E>K | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000618166 CA302324 RCV000171116 rs786205847 RCV000232080 RCV000781871 |
24 | G>S | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002530927 CA313279110 RCV000588163 RCV002367992 RCV001803869 rs963277918 |
34 | S>N | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780018849 RCV000690889 CA408634491 RCV002456003 RCV000520729 |
38 | D>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002375035 rs755986911 CA9817271 RCV001136819 |
39 | V>M | Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000342871 rs786205841 CA302240 RCV000171086 RCV003165349 RCV000285552 RCV001094618 |
43 | S>N | Congenital long QT syndrome Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1990633233 RCV001039959 |
44 | P>S | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA302327 RCV001197325 RCV002399610 RCV000171117 RCV000705669 rs786205848 |
54 | G>R | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000619165 RCV000197104 RCV000128178 rs573772189 RCV001136818 CA293641 |
56 | P>S | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs555231776 RCV001701104 RCV000610275 RCV002404697 RCV001499140 CA9817269 |
58 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001331019 rs1990630503 |
62 | A>E | Long QT syndrome 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135401951 CA408634218 RCV000496512 |
65 | N>S | Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420564 RCV000590155 RCV000687591 CA313278990 rs536755693 |
67 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1990629807 RCV001053396 |
68 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000852950 rs572545726 CA9817266 RCV000624992 RCV000857623 RCV000406481 RCV000252164 RCV000434724 |
74 | P>L | Long QT syndrome 12 Long QT syndrome Ventricular tachycardia Long qt syndrome 12 (lqt12) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002525110 rs1241571413 CA408634090 RCV000520269 |
78 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786205842 CA302243 RCV003060424 |
84 | Q>* | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA302246 RCV002516553 RCV000171088 rs786205843 |
87 | R>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000347787 RCV000290382 CA10649619 RCV003168516 rs886056627 |
93 | A>T | Congenital long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205844 RCV000171089 RCV001852055 CA302249 |
94 | D>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1740678 RCV000540961 CA302252 RCV002492708 RCV000781872 RCV000656979 RCV002433740 rs766925398 |
96 | G>A | Long QT syndrome 12 Long QT syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75025585 RCV001296955 |
106 | R>P | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228099 RCV000852949 CA199980 RCV000756673 rs75025585 RCV000250468 RCV001094617 RCV000171823 |
106 | R>Q | Long QT syndrome Long QT syndrome 12 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA408633560 rs755263941 RCV000497758 |
123 | A>G | Long QT syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA408633559 RCV002504539 rs1430826527 RCV001344355 |
124 | D>N | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201421292 CA236849 RCV000171711 RCV000522990 RCV001059988 |
125 | Q>H | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000515802 RCV001035520 RCV002354425 CA302315 rs199964677 |
130 | F>L | Long QT syndrome Sick sinus syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756587722 RCV002485084 RCV003165351 CA302339 RCV000171121 RCV001340450 |
135 | I>L | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346075 RCV000489834 CA9817229 rs142978180 RCV000620309 |
144 | S>A | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001079048 RCV001143394 rs141724500 RCV000618648 RCV000171113 CA235722 RCV000990300 |
147 | T>N | Long QT syndrome 1 Long QT syndrome Long QT syndrome 12 Long qt syndrome 12 (lqt12) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001001979 CA408633367 rs1471172997 |
153 | Q>H | Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs775580363 RCV000274218 RCV000620625 RCV001861164 RCV000331608 CA9817200 |
172 | V>I | Congenital long QT syndrome Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000171092 RCV000765488 rs781703999 CA302258 RCV001852056 |
176 | F>L | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747367304 CA9817196 RCV001143393 |
180 | T>A | Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA236843 RCV001359789 RCV000171709 rs201405395 |
182 | G>R | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200755101 CA302330 RCV000171118 RCV002485083 RCV002345577 RCV000631640 |
186 | G>S | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750125166 CA9817192 RCV000809380 |
188 | D>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001213908 RCV000251711 RCV000587989 rs144860423 RCV000624991 CA9817191 |
189 | S>L | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000413113 CA346668 RCV000529567 RCV000621647 RCV000157504 rs530603992 |
197 | R>W | Long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000245286 RCV000577950 CA9817183 RCV000578006 rs771180054 RCV001270098 RCV000578008 RCV001859463 RCV000578061 |
207 | R>Q | Becker muscular dystrophy Duchenne muscular dystrophy Long QT syndrome 12 Long QT syndrome Dilated cardiomyopathy 3B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000246676 RCV001589306 RCV001143392 rs139537086 RCV000863151 CA9817184 |
207 | R>W | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337872 rs1989910947 |
220 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002362872 CA302261 rs779370807 COSM1681621 RCV002485079 RCV000171093 |
223 | S>L | Variant assessed as Somatic; 0.0 impact. Long QT syndrome 12 haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs34479952 RCV000171094 RCV000558137 RCV002362873 CA302264 RCV000780741 |
226 | C>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM379258 RCV002480725 CA9817156 RCV001220408 rs35168199 |
240 | S>L | lung Long QT syndrome 12 Long QT syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001141565 rs1989777102 |
247 | L>R | Long QT syndrome 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390407 RCV000171095 CA302267 RCV001852057 RCV002485080 rs759487225 |
253 | D>E | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001297825 RCV000423567 rs1057524281 CA16607972 |
255 | A>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs56157422 RCV000191018 RCV000990299 RCV000247418 RCV001256962 RCV001706109 RCV000171774 CA199841 VAR_062399 |
257 | A>G | Long QT syndrome 1 Long QT syndrome Long QT syndrome 12 Long qt syndrome 12 (lqt12) LQT12; leads to a gain of function of the voltage dependent sodium channel [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002397523 RCV000755690 rs56157422 CA9817150 |
257 | A>V | Long QT syndrome 12 Long qt syndrome 12 (lqt12) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9817148 RCV000620167 RCV000462505 rs774643587 |
259 | S>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002406496 rs139467962 COSM1411210 RCV002485491 RCV000657872 RCV002536318 CA9817146 |
261 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Long QT syndrome Long QT syndrome 12 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA235716 RCV000225771 RCV000157505 rs200316080 RCV000171082 RCV003224177 RCV000618960 |
262 | T>P | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000185526 RCV000266318 rs150576530 RCV000171097 CA235719 RCV000678949 RCV000206185 RCV002408740 |
263 | A>S | Congenital long QT syndrome Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000445272 rs144465646 CA9817137 RCV002418333 RCV000867508 |
272 | T>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001141563 CA9817134 RCV002559372 RCV002429777 rs750459988 |
273 | P>S | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002408707 RCV000157506 rs137986136 CA346671 RCV001058598 |
274 | R>Q | Brugada syndrome Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201763667 RCV000786411 CA9817131 RCV000469122 RCV002429552 |
274 | R>W | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001303337 rs1489981173 CA408631521 |
276 | K>Q | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000589967 rs763371307 CA9817113 RCV001233106 |
302 | E>G | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200709948 CA9817092 RCV000621862 RCV001358998 |
309 | T>I | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9817089 RCV001303154 rs766990229 |
319 | K>E | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1989760531 RCV001301677 |
327 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA302276 RCV003165350 rs769528459 RCV000171099 RCV001852058 |
331 | R>C | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000171100 RCV000559623 CA302279 RCV002381547 rs575431717 RCV001138963 |
331 | R>H | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA408631144 RCV001211173 rs1425754256 |
335 | S>N | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs149126874 CA9817081 RCV000476847 |
336 | R>Q | Variant assessed as Somatic; 4.912e-05 impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9817082 RCV000539589 rs747104878 RCV002420361 |
336 | R>W | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138164106 RCV002339102 CA9817079 RCV002480330 RCV000438313 RCV001244316 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. Long QT syndrome Long QT syndrome 12 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775891730 RCV002504535 RCV002224068 RCV001341714 |
341 | A>missing | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702428 RCV002477620 CA9817076 RCV002422578 rs754242619 |
341 | A>T | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001138962 rs1989758393 |
342 | P>R | Long QT syndrome 12 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703012 RCV003165887 rs1200381592 CA408630830 |
354 | S>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA302282 RCV000656217 RCV000171101 RCV001138961 RCV000796538 RCV000243691 rs147964932 RCV003155101 |
363 | E>A | Long QT syndrome Long QT syndrome 12 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000463569 CA16616457 rs1060503675 |
368 | L>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804714 RCV002487718 rs1012069434 CA313252192 |
369 | R>H | Variant assessed as Somatic; 0.0 impact. Long QT syndrome 12 Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9817034 rs754648214 COSM1411208 RCV000348902 RCV000387494 |
373 | R>H | Variant assessed as Somatic; 4.69e-05 impact. large_intestine Congenital long QT syndrome Long QT syndrome 12 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1411207 CA9817029 RCV000631638 RCV002457997 rs767361112 RCV002483780 |
383 | V>M | large_intestine Variant assessed as Somatic; 4.649e-05 impact. Long QT syndrome 12 Long QT syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000617690 RCV000424013 rs200865199 RCV000686555 CA9817028 |
386 | P>L | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs570991600 RCV002325211 CA9817026 RCV000631595 |
388 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1568746798 CA408630616 RCV000689306 |
390 | A>P | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852541 RCV000008997 VAR_062400 RCV000414434 RCV002326671 CA254410 rs121434500 RCV002512925 |
390 | A>V | Atrial fibrillation Long QT syndrome Long QT syndrome 12 Long qt syndrome 12 (lqt12) LQT12; results in released inhibition of nNOS, S-nitrosylation of SCN5A and increased late sodium current [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808870 CA9817024 RCV000497450 RCV002496913 rs567451585 |
394 | R>C | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000282270 rs750278583 CA10653080 RCV000374416 |
394 | R>H | Congenital long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771369802 RCV001342404 CA9817022 RCV002348091 RCV000317445 RCV000259983 RCV001770272 |
402 | R>Q | Variant assessed as Somatic; 0.0 impact. Congenital long QT syndrome Long QT syndrome 12 Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373387978 RCV000185534 CA275494 RCV002345666 |
402 | R>W | Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880217 CA346674 RCV000157507 |
404 | A>T | Ventricular fibrillation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000470910 CA302288 RCV000171103 RCV002390408 rs533902889 RCV002485081 |
415 | T>M | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001300720 rs375515058 CA9816996 RCV001803192 |
419 | R>C | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751302839 RCV000365827 RCV000265998 CA302291 RCV000171104 |
419 | R>H | Congenital long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042674 rs1030135305 CA313251257 |
435 | A>V | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201571071 RCV002515252 RCV000171706 CA236834 |
444 | V>M | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000678954 CA408630255 rs1187536758 RCV002531398 |
447 | R>* | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002476523 rs752729935 RCV001323693 CA9816978 |
447 | R>Q | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs188835994 CA9816971 RCV000520393 RCV001349981 RCV002481701 RCV002395247 |
463 | L>R | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA334157 RCV001136715 RCV002390400 RCV000168024 rs370531842 RCV001527060 |
481 | S>L | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA302306 RCV002490122 RCV003166925 RCV002224106 RCV001902770 rs144006909 |
495 | S>L | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA408629922 RCV001296088 RCV002486123 rs1463586615 |
496 | A>P | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002498861 RCV000171705 rs786205426 CA204270 RCV000190224 |
500 | R>C | Long QT syndrome 12 Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001042535 rs1989651824 |
502 | G>A | Long QT syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA302309 rs768377696 RCV001136713 RCV001852059 |
502 | G>R | Long QT syndrome Long QT syndrome 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699794 CA408629860 rs1568745550 |
506 | A>Y | Variant assessed as Somatic; impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555822209 RCV000621198 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
rs1160832849 CA408634859 |
4 | G>R | No |
ClinGen gnomAD |
|
|
CA408634849 rs980437334 |
5 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000171114 rs786205845 CA302318 |
6 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1259656532 CA408634824 |
7 | A>T | No |
ClinGen TOPMed |
|
|
rs786205840 CA302237 RCV002307430 |
8 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1216164802 CA408634806 |
8 | P>Q | No |
ClinGen TOPMed |
|
|
CA408634792 rs1468381311 |
10 | T>P | No |
ClinGen TOPMed |
|
|
rs1158625885 CA408634722 |
16 | R>P | No |
ClinGen TOPMed |
|
|
rs1362176861 CA408634718 |
17 | A>T | No |
ClinGen TOPMed |
|
|
rs983131823 CA313279142 |
18 | G>A | No |
ClinGen TOPMed |
|
|
rs1131691995 CA408634708 RCV000493858 |
18 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA408634703 rs1131691995 |
18 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA313279141 rs866386973 |
21 | S>L | No |
ClinGen Ensembl |
|
|
rs1214219784 CA408634662 |
22 | G>E | No |
ClinGen gnomAD |
|
|
rs950506561 CA313279134 |
22 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408634639 rs1234217932 |
24 | G>D | No |
ClinGen gnomAD |
|
|
CA313279112 rs867072880 |
25 | G>S | No |
ClinGen Ensembl |
|
|
rs1234604785 CA408634618 |
26 | E>A | No |
ClinGen TOPMed |
|
|
CA408634616 rs1234604785 |
26 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408634595 rs1433264223 |
28 | W>R | No |
ClinGen gnomAD |
|
|
CA313279111 rs974292570 |
32 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1404345979 CA408634506 |
36 | A>V | No |
ClinGen gnomAD |
|
|
rs1007572324 CA313279097 |
42 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA313279090 rs866263623 |
43 | S>R | No |
ClinGen Ensembl |
|
|
rs867281520 CA313279082 |
44 | P>H | No |
ClinGen gnomAD |
|
|
CA408634438 rs867281520 |
44 | P>L | No |
ClinGen gnomAD |
|
|
rs1198094581 CA408634409 |
47 | G>S | No |
ClinGen gnomAD |
|
|
CA408634399 rs1477839619 |
48 | D>N | No |
ClinGen gnomAD |
|
|
CA408634364 rs1191388027 |
50 | G>V | No |
ClinGen gnomAD |
|
|
CA408634343 rs1201896555 CA408634341 |
52 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408634348 rs1279060230 |
52 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1033217999 CA313279077 |
53 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1568764810 CA408634334 |
53 | P>L | No |
ClinGen Ensembl |
|
|
rs1033217999 CA313279071 |
53 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs905993211 CA313279023 |
59 | Q>* | No |
ClinGen gnomAD |
|
|
CA313279020 rs1023067137 |
60 | E>K | No |
ClinGen TOPMed |
|
|
CA408634261 rs1211814013 |
61 | P>S | No |
ClinGen TOPMed |
|
|
CA408634253 rs1568764768 |
62 | A>P | No |
ClinGen Ensembl |
|
|
rs1429235771 CA408634232 |
64 | L>V | No |
ClinGen gnomAD |
|
|
rs1256947639 CA408634225 |
65 | N>H | No |
ClinGen TOPMed |
|
|
CA313279016 rs1014735571 |
66 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1014735571 CA313278996 |
66 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408634198 rs536755693 |
67 | A>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA408634187 RCV000508536 rs1555822126 |
69 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA408634159 rs1313088692 |
71 | G>V | No |
ClinGen TOPMed |
|
|
rs1465734230 CA408634146 |
73 | G>R | No |
ClinGen gnomAD |
|
|
CA408634135 rs1191500220 |
74 | P>S | No |
ClinGen gnomAD |
|
|
CA408634122 rs1273056602 |
75 | P>R | No |
ClinGen gnomAD |
|
|
rs929041171 CA313278955 |
76 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408634054 rs1260084131 |
82 | L>Q | No |
ClinGen gnomAD |
|
|
rs1318783103 CA408634056 |
82 | L>V | No |
ClinGen gnomAD |
|
|
rs1350459556 CA408634049 |
83 | L>F | No |
ClinGen TOPMed |
|
|
rs786205842 CA408634039 |
84 | Q>K | No |
ClinGen gnomAD |
|
|
rs1381008513 CA408634024 |
85 | R>L | No |
ClinGen gnomAD |
|
|
rs1450685602 CA408634029 |
85 | R>W | No |
ClinGen gnomAD |
|
|
CA313278926 rs973574841 |
87 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1167716962 CA408634002 |
88 | V>E | No |
ClinGen gnomAD |
|
|
CA408633992 rs1484777920 |
89 | T>K | No |
ClinGen TOPMed |
|
|
rs1414481454 CA408633986 |
90 | V>M | No |
ClinGen gnomAD |
|
|
rs1164892695 CA408633969 |
91 | R>L | No |
ClinGen gnomAD |
|
|
rs1455411648 CA408633958 |
92 | K>N | No |
ClinGen TOPMed |
|
|
CA408633966 rs1185830113 |
92 | K>Q | No |
ClinGen TOPMed |
|
|
rs962887472 CA313278910 |
92 | K>R | No |
ClinGen TOPMed |
|
|
rs867278250 CA313278895 |
93 | A>V | No |
ClinGen Ensembl |
|
|
CA408633945 rs1458397597 |
94 | D>A | No |
ClinGen gnomAD |
|
|
CA313278886 rs786205844 |
94 | D>N | No |
ClinGen TOPMed |
|
|
CA408633930 rs1600868062 |
95 | A>G | No |
ClinGen Ensembl |
|
|
rs930505019 CA313278884 |
96 | G>S | No |
ClinGen Ensembl |
|
|
CA9817261 rs761024617 |
97 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867906353 CA408633898 |
99 | G>D | No |
ClinGen gnomAD |
|
|
rs867906353 CA313278862 |
99 | G>V | No |
ClinGen gnomAD |
|
|
rs1230512806 CA408633892 |
100 | I>N | No |
ClinGen gnomAD |
|
|
CA9817260 rs774033340 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9817259 rs768233171 |
103 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408633857 rs1314800177 |
103 | K>R | No |
ClinGen gnomAD |
|
|
CA313278831 rs867039826 |
104 | G>C | No |
ClinGen Ensembl |
|
|
rs1009302553 CA313275762 |
105 | G>S | No |
ClinGen gnomAD |
|
|
CA9817242 rs552509775 |
106 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 107 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759043867 CA9817241 |
108 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA408633663 rs1215451345 |
108 | N>Y | No |
ClinGen gnomAD |
|
|
rs1280251666 TCGA novel CA408633652 |
109 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1443491827 CA408633636 |
111 | P>L | No |
ClinGen TOPMed |
|
|
rs776520763 CA9817240 |
112 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770578866 CA9817239 |
113 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376756802 CA9817237 |
114 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359697782 CA408633615 |
115 | S>Y | No |
ClinGen gnomAD |
|
|
CA9817236 rs370893672 |
116 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466316930 CA408633610 |
116 | K>T | No |
ClinGen gnomAD |
|
|
CA408633593 rs1359995269 |
118 | F>C | No |
ClinGen gnomAD |
|
|
rs1398552010 CA408633577 |
120 | G>V | No |
ClinGen TOPMed |
|
|
rs151113230 RCV000171111 CA302312 RCV002345576 |
122 | A>T | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
rs755263941 CA9817233 |
123 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA408633547 rs1243911929 |
125 | Q>P | No |
ClinGen TOPMed |
|
|
rs1186334279 CA408633539 |
126 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1053739048 CA313275668 |
130 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600864260 CA408633496 |
133 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 137 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9817231 rs768194552 |
140 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768194552 CA9817232 |
140 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600864236 CA408633447 |
141 | E>G | No |
ClinGen Ensembl |
|
|
CA9817230 rs762351550 |
142 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9817228 rs764612744 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs141724500 CA9817226 |
147 | T>I | Long qt syndrome 12 (lqt12) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000208331 CA354880 RCV002336582 rs772936861 |
151 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA408633377 rs1600864175 |
152 | V>G | No |
ClinGen Ensembl |
|
|
rs1600864163 CA408633362 |
154 | V>G | No |
ClinGen Ensembl |
|
|
rs200241523 CA236846 RCV000171710 |
154 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772004957 CA9817224 |
156 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9817223 rs748041689 |
157 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA313275610 rs908403821 |
158 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 158 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408633333 rs1231782705 |
159 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1231782705 CA408633331 |
159 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA313275606 rs983100951 |
160 | K>E | No |
ClinGen TOPMed |
|
|
CA408633310 rs1600864112 |
162 | V>G | No |
ClinGen Ensembl |
|
|
CA408633315 rs1182058551 |
162 | V>M | No |
ClinGen gnomAD |
|
|
rs1321364639 CA408632942 |
166 | V>A | No |
ClinGen gnomAD |
|
|
rs779076721 CA9817222 |
166 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs932909554 CA313261192 |
167 | K>R | No |
ClinGen TOPMed |
|
|
CA408632911 rs1462781751 |
169 | M>V | No |
ClinGen gnomAD |
|
|
CA9817201 rs775580363 |
172 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA9817199 rs770142459 |
174 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289458220 CA408632804 |
178 | N>H | No |
ClinGen gnomAD |
|
|
rs893512920 CA313261170 |
178 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs899465712 CA313261172 |
178 | N>S | No |
ClinGen TOPMed |
|
|
CA408632792 rs1370412149 |
179 | S>A | No |
ClinGen TOPMed |
|
|
rs1354126555 CA408632789 |
179 | S>C | No |
ClinGen gnomAD |
|
|
CA9817195 rs528708281 |
181 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408632769 rs528708281 |
181 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408632758 rs1600844787 |
183 | T>P | No |
ClinGen Ensembl |
|
|
CA9817194 rs753294770 |
184 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408632748 rs1243479557 |
184 | S>T | No |
ClinGen TOPMed |
|
|
rs1568751430 CA408632736 |
185 | V>L | No |
ClinGen Ensembl |
|
|
COSM109038 CA313261099 rs140994858 |
186 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1600844738 CA408632716 |
187 | W>G | No |
ClinGen Ensembl |
|
|
rs1600844722 CA408632701 |
188 | D>A | No |
ClinGen Ensembl |
|
|
CA408632682 rs1451178767 |
190 | P>A | No |
ClinGen gnomAD |
|
|
CA408632654 rs1212907907 |
193 | S>P | No |
ClinGen TOPMed |
|
| rs1443071118 | 195 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775740746 CA9817187 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408632590 rs1286094184 |
199 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408632588 rs1286094184 |
199 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408632591 rs1286094184 |
199 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408632563 rs1348837893 |
201 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA408632568 rs1274179290 |
201 | S>P | No |
ClinGen gnomAD |
|
|
rs1348837893 CA408632566 |
201 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 203 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408632516 rs1568751340 |
206 | P>L | No |
ClinGen Ensembl |
|
|
CA9817185 rs745916117 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs786205849 CA302333 RCV000171119 |
208 | N>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA408632492 rs1366870649 |
209 | F>I | No |
ClinGen TOPMed |
|
|
CA408632475 rs1281992071 |
210 | S>G | No |
ClinGen gnomAD |
|
|
CA408632465 rs1435395578 |
210 | S>N | No |
ClinGen TOPMed |
|
|
CA408632459 rs1327460672 |
211 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9817180 rs758862568 |
215 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175003815 CA408632251 |
225 | R>T | No |
ClinGen gnomAD |
|
|
rs756879459 CA9817176 |
227 | T>S | No |
ClinGen ExAC |
|
|
rs1064796525 CA16620926 RCV000480544 |
229 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1243725752 CA408632191 |
230 | D>N | No |
ClinGen gnomAD |
|
|
rs559396761 CA9817175 |
231 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1600844458 CA408632147 |
233 | P>T | No |
ClinGen Ensembl |
|
|
rs1203159357 CA408632033 |
234 | R>S | No |
ClinGen gnomAD |
|
|
rs756888522 CA9817158 |
235 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA408631978 rs1303989910 |
239 | C>R | No |
ClinGen TOPMed |
|
|
CA9817154 rs200777037 |
242 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380160749 CA408631931 |
243 | G>S | No |
ClinGen gnomAD |
|
|
rs1192364082 CA408631825 |
251 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753970246 CA9817152 |
254 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1355760161 CA408631781 |
254 | E>K | No |
ClinGen gnomAD |
|
|
CA9817151 rs192115867 |
256 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs56157422 CA408631738 |
257 | A>E | Long qt syndrome 12 (lqt12) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1165261000 CA408631745 |
257 | A>T | No |
ClinGen gnomAD |
|
|
CA302270 rs776064801 RCV002399609 RCV000171096 |
258 | R>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs769159253 CA9817147 |
261 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200316080 CA9817144 |
262 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408631637 RCV000620278 rs373610918 |
265 | Q>* | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs373610918 CA313253449 |
265 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752552345 CA9817142 |
265 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754989824 CA408631571 |
270 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9817140 rs754989824 |
270 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs767797875 CA9817133 |
273 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35938843 CA313253408 |
276 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9817128 rs746587763 |
278 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770192754 CA9817129 |
278 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1222759870 CA408631496 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000171708 CA236840 rs200878531 |
282 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1360175710 CA408631482 |
282 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408631468 rs1344735319 |
284 | A>G | No |
ClinGen gnomAD |
|
|
CA9817122 rs749033540 |
286 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780098159 CA9817121 |
287 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755952317 CA9817120 |
287 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9817119 rs750525497 |
288 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408631443 rs1290897335 |
289 | A>T | No |
ClinGen gnomAD |
|
|
CA9817118 rs561768315 |
290 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408631433 rs1430067140 |
291 | S>R | No |
ClinGen gnomAD |
|
|
rs1479748148 CA408631392 |
296 | Q>* | No |
ClinGen gnomAD |
|
|
rs368737149 CA9817116 |
296 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764267789 CA9817115 |
300 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA313253291 rs141775350 |
304 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408631313 rs1353217013 |
306 | S>I | No |
ClinGen gnomAD |
|
|
rs758491082 CA9817094 |
308 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200709948 CA9817093 |
309 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202185798 CA313253259 |
312 | T>P | No |
ClinGen Ensembl |
|
|
CA9817090 rs754344254 |
315 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1250616192 CA408631247 |
318 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 319 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479630096 CA408631236 |
320 | E>* | No |
ClinGen gnomAD |
|
|
rs1163832276 CA408631219 |
323 | L>F | No |
ClinGen TOPMed |
|
|
rs1391937955 CA408631216 |
323 | L>H | No |
ClinGen TOPMed |
|
|
CA408631202 rs1223000642 |
325 | L>S | No |
ClinGen gnomAD |
|
|
rs768431530 CA9817087 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9817086 rs546104057 |
330 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9817084 rs575431717 |
331 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891869271 CA313253204 |
332 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1457103862 CA408631134 |
337 | P>S | No |
ClinGen gnomAD |
|
|
CA408631123 rs138164106 |
339 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9817078 rs766113829 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1160695974 CA408631115 |
340 | T>I | No |
ClinGen gnomAD |
|
|
CA408631110 rs1568747943 |
341 | A>D | No |
ClinGen Ensembl |
|
|
CA9817074 rs767008337 |
343 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9817072 rs150474420 |
345 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9817047 rs776440719 |
349 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190681390 CA408630861 |
349 | V>L | No |
ClinGen gnomAD |
|
|
rs1190681390 CA408630863 |
349 | V>M | No |
ClinGen gnomAD |
|
|
CA408630852 rs112915605 |
350 | H>Q | No |
ClinGen TOPMed |
|
|
rs766111673 CA9817046 |
350 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA408630846 rs1462693669 |
351 | S>L | No |
ClinGen gnomAD |
|
|
rs786205427 CA236837 RCV000171707 |
353 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1277189929 CA408630835 |
353 | P>L | No |
ClinGen gnomAD |
|
|
CA9817045 rs760439095 |
355 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773091441 CA9817044 |
357 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1315287232 CA408630807 |
358 | V>A | No |
ClinGen gnomAD |
|
|
rs772034732 CA9817043 |
358 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408630805 rs1600837337 |
359 | P>T | No |
ClinGen Ensembl |
|
|
CA9817040 rs768794681 |
361 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1398480607 CA408630781 |
362 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9817039 rs749476668 |
363 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1046815 VAR_014075 CA313252199 |
364 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs369968387 RCV000171091 CA302255 RCV002453587 COSM1025917 |
369 | R>C | Variant assessed as Somatic; 0.000379 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA408630736 rs746227626 |
370 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA302285 RCV000171102 rs746227626 RCV002433741 |
370 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1481575258 CA408630732 |
371 | G>R | No |
ClinGen gnomAD |
|
|
rs1275683627 CA408630725 |
372 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9817036 rs752149940 |
373 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9817037 rs752149940 |
373 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754648214 CA9817035 |
373 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047111033 CA313252113 |
375 | G>D | No |
ClinGen Ensembl |
|
|
CA9817033 rs753535656 |
375 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408630705 rs1283111325 |
376 | V>E | No |
ClinGen gnomAD |
|
|
rs765983104 CA9817032 |
378 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9817031 rs142483012 |
378 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365956176 CA408630652 |
384 | E>G | No |
ClinGen gnomAD |
|
|
rs775924918 CA9817025 |
391 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1600837109 CA408630606 |
392 | W>R | No |
ClinGen Ensembl |
|
|
rs1600837099 CA408630598 |
393 | T>P | No |
ClinGen Ensembl |
|
|
rs750278583 CA313252060 |
394 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 399 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408630542 rs1600837083 |
401 | H>P | No |
ClinGen Ensembl |
|
|
CA9817019 rs753334914 |
405 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408630513 rs1390172830 |
406 | G>V | No |
ClinGen gnomAD |
|
|
rs1352197705 CA408630512 |
407 | V>M | No |
ClinGen gnomAD |
|
|
rs786205850 CA302336 RCV000171120 |
409 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9817017 rs755699449 |
411 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs533902889 CA9816998 |
415 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764137450 CA9816995 |
420 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9816991 rs759510703 |
426 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9816990 rs771053140 |
427 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000171105 RCV002372066 CA302294 rs151158866 |
427 | I>V | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA408630365 rs1390997295 |
428 | D>G | No |
ClinGen TOPMed |
|
|
rs773499608 CA408630368 |
428 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773499608 CA9816988 |
428 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1429414833 CA408630360 |
429 | K>E | No |
ClinGen TOPMed |
|
|
CA313251274 RCV002383215 rs955414123 |
429 | K>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1410676023 CA408630357 |
429 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 432 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408630331 rs1568745975 |
433 | L>Q | No |
ClinGen Ensembl |
|
|
RCV000171106 rs772600822 CA302297 |
434 | W>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9816986 rs748606102 |
435 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs371648806 CA9816984 |
437 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9816983 rs367662513 |
439 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464994264 CA408630288 |
440 | A>V | No |
ClinGen gnomAD |
|
|
CA408630286 rs1359042004 |
441 | A>P | No |
ClinGen gnomAD |
|
|
CA302300 RCV000171107 rs375603980 |
442 | R>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9816981 rs746800138 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257678676 CA408630251 |
448 | Q>E | No |
ClinGen gnomAD |
|
|
rs148604302 COSM577096 CA9816976 |
451 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs148604302 CA313251200 |
451 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs538593147 CA408630218 |
452 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs895391388 CA313251195 |
454 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1360365145 CA408630198 |
455 | M>I | No |
ClinGen gnomAD |
|
|
CA408630187 rs1248796360 |
457 | S>A | No |
ClinGen TOPMed |
|
|
CA408630183 rs1449018572 |
458 | D>N | No |
ClinGen TOPMed |
|
|
rs1568745840 CA408630178 |
458 | D>V | No |
ClinGen Ensembl |
|
|
CA9816972 rs368660364 |
460 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408630158 rs1299230902 |
461 | A>G | No |
ClinGen gnomAD |
|
|
rs188835994 CA408630144 |
463 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA302303 RCV000620667 RCV000171108 rs774908810 |
465 | F>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA9816969 rs745400766 |
467 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA408630097 rs1422703925 |
471 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 473 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408630074 rs1184249112 |
474 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408630052 rs1203441212 |
476 | Q>K | No |
ClinGen TOPMed |
|
|
rs978530002 CA313251041 |
479 | L>P | No |
ClinGen Ensembl |
|
|
CA408630010 rs1387879914 |
482 | C>S | No |
ClinGen gnomAD |
|
|
CA408629998 rs1267154737 |
484 | K>E | No |
ClinGen TOPMed |
|
|
rs1177064394 CA408629987 |
485 | T>I | No |
ClinGen gnomAD |
|
|
CA408629986 rs1470898136 |
486 | I>V | No |
ClinGen gnomAD |
|
|
CA9816936 rs751981336 |
491 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA313251016 rs959551733 |
492 | S>A | No |
ClinGen Ensembl |
|
|
rs763351253 CA9816934 |
494 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144006909 CA313251011 |
495 | S>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9816930 rs532358011 |
499 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000780738 rs1568745571 |
500 | R>missing | No |
ClinVar dbSNP |
|
|
CA313250993 rs786205426 |
500 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761509610 COSM1411205 CA9816928 |
500 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
1 associated diseases with Q13424
[MIM: 612955]: Long QT syndrome 12 (LQT12)
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:18591664, ECO:0000269|PubMed:19684871}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:18591664, ECO:0000269|PubMed:19684871}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q13424
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 87 - 170 | IPR001478 |
| domain | Pleckstrin homology domain | 6 - 271 | IPR001849-1 |
| domain | Pleckstrin homology domain | 293 - 403 | IPR001849-2 |
| domain | Syntrophin, split Pleckstrin homology (PH) domain | 209 - 270 | IPR041428 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| dystrophin-associated glycoprotein complex | A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| syntrophin complex | A protein complex that includes alpha-, beta1-, beta2-syntrophins and syntrophin-like proteins; the syntrophin complex binds to the second half of the carboxy-terminal domain of dystrophin; also associates with neuronal nitric oxide synthase. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| nitric-oxide synthase binding | Binding to nitric-oxide synthase. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| sodium channel regulator activity | Binds to and modulates the activity of a sodium channel. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| negative regulation of peptidyl-cysteine S-nitrosylation | Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-cysteine S-nitrosylation. |
| neuromuscular junction development | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
| regulation of heart rate | Any process that modulates the frequency or rate of heart contraction. |
| regulation of sodium ion transmembrane transport | Any process that modulates the frequency, rate or extent of sodium ion transmembrane transport. |
| regulation of vasoconstriction by circulating norepinephrine | Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels as a result of secretion of norepinephrine into the bloodstream. |
| regulation of ventricular cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
| ventricular cardiac muscle cell action potential | An action potential that occurs in a ventricular cardiac muscle cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGRRAPRT | GLLELRAGAG | SGAGGERWQR | VLLSLAEDVL | TVSPADGDPG | PEPGAPREQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAQLNGAAEP | GAGPPQLPEA | LLLQRRRVTV | RKADAGGLGI | SIKGGRENKM | PILISKIFKG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LAADQTEALF | VGDAILSVNG | EDLSSATHDE | AVQVLKKTGK | EVVLEVKYMK | DVSPYFKNST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GGTSVGWDSP | PASPLQRQPS | SPGPTPRNFS | EAKHMSLKMA | YVSKRCTPND | PEPRYLEICS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADGQDTLFLR | AKDEASARSW | ATAIQAQVNT | LTPRVKDELQ | ALLAATSTAG | SQDIKQIGWL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEQLPSGGTA | PTLALLTEKE | LLLYLSLPET | REALSRPART | APLIATRLVH | SGPSKGSVPY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DAELSFALRT | GTRHGVDTHL | FSVESPQELA | AWTRQLVDGC | HRAAEGVQEV | STACTWNGRP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSLSVHIDKG | FTLWAAEPGA | ARAVLLRQPF | EKLQMSSDDG | ASLLFLDFGG | AEGEIQLDLH |
| 490 | 500 | ||||
| SCPKTIVFII | HSFLSAKVTR | LGLLA |