chr11:2604765:C>A Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,604,765-2,604,765
hg38 chr11:2,583,535-2,583,535 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1022C>A NP_000209.2:p.Ala341Glu
NM_181798.1:c.641C>A NP_861463.1:p.Ala214Glu
Ensemble ENST00000496887.7:c.761C>A ENST00000496887.7:p.Ala254Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607542 OMIM
HGNC 6294 HGNC
Ensembl ENSG00000053918 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-03-23 no assertion criteria provided long QT syndrome 1 germline Detail
Pathogenic 1999-03-23 no assertion criteria provided Long QT syndrome 1/2, digenic germline Detail
Pathogenic 2023-08-28 criteria provided, single submitter long QT syndrome germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2022-11-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-08-10 criteria provided, single submitter germline Detail
Pathogenic 2021-11-16 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.573 Romano-Ward Syndrome A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 ... UNIPROT 15840476 Detail
0.417 long QT syndrome The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinica... BeFree 17984373 Detail
0.417 long QT syndrome Members of a South African LQTS-type 1 founder population (181 noncarriers and 1... BeFree 25087618 Detail
0.573 Romano-Ward Syndrome The study assesses complexity of the cardiac control directed to the sinus node ... BeFree 24705789 Detail
0.573 Romano-Ward Syndrome Retrospective analysis of the first 2,500 cases (1,515 female patients, average ... UNIPROT 19716085 Detail
0.007 cardiac event Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac ev... BeFree 17010804 Detail
0.133 Congenital long QT syndrome With this method, we identified the mutation(s) in all four patients with congen... BeFree 16155735 Detail
0.417 long QT syndrome Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the... BeFree 21854832 Detail
0.417 long QT syndrome This study tested the hypothesis that vagal and sympathetic control, as assessed... BeFree 25634836 Detail
0.003 Fetal Distress Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac ev... BeFree 17010804 Detail
0.133 Congenital long QT syndrome The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to car... BeFree 24217263 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Long QT syndrome 1/2, digenic ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) AND Cardiac arrhythmia ClinVar Detail
NA DisGeNET Detail
A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3)... DisGeNET Detail
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in ... DisGeNET Detail
Members of a South African LQTS-type 1 founder population (181 noncarriers and 168 mutation carriers... DisGeNET Detail
The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in... DisGeNET Detail
Retrospective analysis of the first 2,500 cases (1,515 female patients, average age at testing 23 +/... DisGeNET Detail
Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac events during pregnanc... DisGeNET Detail
With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A34... DisGeNET Detail
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. DisGeNET Detail
This study tested the hypothesis that vagal and sympathetic control, as assessed by spectral analysi... DisGeNET Detail
Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac events during pregnanc... DisGeNET Detail
The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12720459 dbSNP
Genome
hg19
Position
chr11:2,604,765-2,604,765
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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