chr11:2585213:G>A 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	chr11:2,606,443-2,606,443 View the variant detail on this assembly version.
hg38	chr11:2,585,213-2,585,213

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1034G>A	NP_000209.2:p.Gly345Glu
	NM_181798.1:c.653G>A	NP_861463.1:p.Gly218Glu
Ensemble	ENST00000155840.12:c.1034G>A	ENST00000155840.12:p.Gly345Glu
	ENST00000335475.6:c.653G>A	ENST00000335475.6:p.Gly218Glu
	ENST00000496887.7:c.771+1668G>A
	ENST00000646564.2:c.588+1668G>A
	ENST00000713725.1:c.893G>A	ENST00000713725.1:p.Gly298Glu

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	tgv371008806	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1996-01-01	no assertion criteria provided	long QT syndrome 1	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2024-01-07	criteria provided, single submitter	long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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.1034G>A (p.Gly345Glu) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) AND Long QT syndrome	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: rs120074183 dbSNP
Genome: hg38
Position: chr11:2,585,213-2,585,213
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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