chr11:2583535:C>T Detail (hg38) (KCNQ1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1022C>T	NP_000209.2:p.Ala341Val
	NM_181798.1:c.641C>T	NP_861463.1:p.Ala214Val
Ensemble	ENST00000646564.2:c.578C>T	ENST00000646564.2:p.Ala193Val
	ENST00000713725.1:c.881C>T	ENST00000713725.1:p.Ala294Val
	ENST00000155840.12:c.1022C>T	ENST00000155840.12:p.Ala341Val
	ENST00000335475.6:c.641C>T	ENST00000335475.6:p.Ala214Val
	ENST00000496887.7:c.761C>T	ENST00000496887.7:p.Ala254Val

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	9
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

KCNQ1

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	COSM687668	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Likely pathogenic		long qt syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-01	criteria provided, multiple submitters, no conflicts	long QT syndrome 1	germline unknown	Detail
Pathogenic	2023-05-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-10-04	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline unknown	Detail
Pathogenic	2022-10-18	criteria provided, single submitter		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

Descrption	Source	Links
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) AND Cardiovascular phenotype	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: hg38
Position: chr11:2,583,535-2,583,535
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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