chr11:2593245:G>A Detail (hg19) (KCNQ1)

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

Information

Genome

Assembly	Position
hg19	chr11:2,593,245-2,593,245
hg38	chr11:2,572,015-2,572,015 View the variant detail on this assembly version.

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.686G>A	NP_000209.2:p.Gly229Asp
	NM_181798.1:c.305G>A	NP_861463.1:p.Gly102Asp
Ensemble	ENST00000155840.12:c.686G>A	ENST00000155840.12:p.Gly229Asp
	ENST00000496887.7:c.425G>A	ENST00000496887.7:p.Gly142Asp
	ENST00000335475.6:c.305G>A	ENST00000335475.6:p.Gly102Asp
	ENST00000646564.2:c.478-11420G>A
	ENST00000713725.1:c.686G>A	ENST00000713725.1:p.Gly229Asp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2014-01-01	no assertion criteria provided	Atrial fibrillation, familial, 3	germline	Detail
Pathogenic	2012-12-12	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2020-05-26	criteria provided, single submitter	long QT syndrome	germline	Detail
Pathogenic		criteria provided, single submitter	KCNQ1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Atrial fibrillation, familial, 3	NA	CLINVAR		Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) AND Atrial fibrillation, familial, 3	ClinVar	Detail
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) AND KCNQ1-related disorder	ClinVar	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: rs199472708 dbSNP
Genome: hg19
Position: chr11:2,593,245-2,593,245
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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