chr11:2583486: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	chr11:2,604,716-2,604,716 View the variant detail on this assembly version.
hg38	chr11:2,583,486-2,583,486

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.973G>A	NP_000209.2:p.Gly325Arg
	NM_181798.1:c.592G>A	NP_861463.1:p.Gly198Arg
Ensemble	ENST00000155840.12:c.973G>A	ENST00000155840.12:p.Gly325Arg
	ENST00000335475.6:c.592G>A	ENST00000335475.6:p.Gly198Arg
	ENST00000496887.7:c.712G>A	ENST00000496887.7:p.Gly238Arg
	ENST00000646564.2:c.529G>A	ENST00000646564.2:p.Gly177Arg
	ENST00000713725.1:c.832G>A	ENST00000713725.1:p.Gly278Arg

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
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
	MONDO

Disease area statistics

MGeND

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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline unknown	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2021-10-26	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2020-02-07	criteria provided, single submitter	long QT syndrome 1	unknown	Detail
Pathogenic	2023-11-22	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	cardiac event	Extensive genotype-phenotype analyses of LQT1 patients showed that T322M-, T322A...	BeFree	23092362	Detail
0.010	Syncope	Prior clinical reports revealed phenotypic variability ranging from the absence ...	BeFree	23000022	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) AND Cardiovascular phenotype	ClinVar	Detail
Extensive genotype-phenotype analyses of LQT1 patients showed that T322M-, T322A-, or G325R-Kv7.1 co...	DisGeNET	Detail
Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to synco...	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: rs199472756 dbSNP
Genome: hg38
Position: chr11:2,583,486-2,583,486
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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