chr11:2593251:G>A Detail (hg19) (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	chr11:2,593,251-2,593,251
hg38	chr11:2,572,021-2,572,021 View the variant detail on this assembly version.

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_181798.1:c.311G>A	NP_861463.1:p.Arg104His
	NM_000218.2:c.692G>A	NP_000209.2:p.Arg231His
Ensemble	ENST00000335475.6:c.311G>A	ENST00000335475.6:p.Arg104His
	ENST00000646564.2:c.478-11414G>A
	ENST00000713725.1:c.692G>A	ENST00000713725.1:p.Arg231His
	ENST00000155840.12:c.692G>A	ENST00000155840.12:p.Arg231His
	ENST00000496887.7:c.431G>A	ENST00000496887.7:p.Arg144His

Summary

MGeND

Clinical significance
Variant entry
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	COSM6691626	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-27	criteria provided, single submitter	long QT syndrome	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2022-05-22	criteria provided, single submitter	Atrial fibrillation, familial, 3	germline	Detail
Pathogenic	2013-09-01	no assertion criteria provided	long QT syndrome 1	germline	Detail
Pathogenic	2023-09-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Atrial fibrillation, familial, 3	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Atrial fibrillation, familial, 3	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Atrial fibrillation, familial, 3	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Atrial fibrillation, familial, 3	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Short QT syndrome type 2,Beckwith-Wiedemann syndrome,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Atrial fibrillation, familial, 3	unknown	Detail
Pathogenic	2021-03-26	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
0.360	Atrial fibrillation, familial, 3	NA	CLINVAR		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.692G>A (p.Arg231His) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND Atrial fibrillation, familial, 3	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND multiple conditions	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND multiple conditions	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND multiple conditions	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND multiple conditions	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND multiple conditions	ClinVar	Detail
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs199472709 dbSNP
Genome: hg19
Position: chr11:2,593,251-2,593,251
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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