chr11:2594101:G>A Detail (hg19) (KCNQ1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:2,594,101-2,594,101
hg38	chr11:2,572,871-2,572,871 View the variant detail on this assembly version.

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_181798.1:c.425G>A	NP_861463.1:p.Gly142Asp
	NM_000218.2:c.806G>A	NP_000209.2:p.Gly269Asp
Ensemble	ENST00000713725.1:c.780+762G>A
	ENST00000335475.6:c.425G>A	ENST00000335475.6:p.Gly142Asp
	ENST00000646564.2:c.478-10564G>A
	ENST00000155840.12:c.806G>A	ENST00000155840.12:p.Gly269Asp
	ENST00000496887.7:c.545G>A	ENST00000496887.7:p.Gly182Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-11-04	no assertion criteria provided	long QT syndrome 1	germline	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	long QT syndrome	germline	Detail
Pathogenic	2023-06-30	criteria provided, single submitter	Congenital long QT syndrome	germline	Detail
Pathogenic Likely pathogenic	2022-03-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-05-02	criteria provided, single submitter		germline	Detail
Pathogenic	2024-02-01	criteria provided, single submitter	KCNQ1-related disorder	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.806G>A (p.Gly269Asp) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) AND Cardiovascular phenotype	ClinVar	Detail
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) 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: rs120074194 dbSNP
Genome: hg19
Position: chr11:2,594,101-2,594,101
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser