chr11:2768881:C>G 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	chr11:2,790,111-2,790,111 View the variant detail on this assembly version.
hg38	chr11:2,768,881-2,768,881

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1552C>G	NP_000209.2:p.Arg518Gly
	NM_181798.1:c.1171C>G	NP_861463.1:p.Arg391Gly
Ensemble	ENST00000155840.12:c.1552C>G	ENST00000155840.12:p.Arg518Gly
	ENST00000335475.6:c.1171C>G	ENST00000335475.6:p.Arg391Gly
	ENST00000496887.7:c.1195C>G	ENST00000496887.7:p.Arg399Gly
	ENST00000646564.2:c.1012C>G	ENST00000646564.2:p.Arg338Gly
	ENST00000713725.1:c.1411C>G	ENST00000713725.1:p.Arg471Gly

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Pathogenic		long qt syndrome	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
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	2023-02-16	criteria provided, single submitter	long QT syndrome	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Likely pathogenic	2018-07-04	criteria provided, single submitter	long QT syndrome 1	unknown	Detail
Uncertain significance	2016-06-02	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
0.002	Congenital deafness	These data extend the range of known KCNQ1 mutations associated with both recess...	BeFree	10737999	Detail
0.573	Romano-Ward Syndrome	The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome ...	BeFree	22309168	Detail
0.417	long QT syndrome	Phenotype, origin and estimated prevalence of a common long QT syndrome mutation...	BeFree	24552659	Detail
<0.001	Gastric Carcinoid Tumor	An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsen...	BeFree	21118729	Detail
0.133	Congenital long QT syndrome	These data extend the range of known KCNQ1 mutations associated with both recess...	BeFree	10737999	Detail
0.585	Jervell-Lange Nielsen syndrome	The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and L...	BeFree	24552659	Detail
<0.001	Gastric Carcinoid Tumor	An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsen...	BeFree	21118729	Detail
0.133	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) AND Long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) AND Congenital long QT syndrome	ClinVar	Detail
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) AND Long QT syndrome 1	ClinVar	Detail
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
These data extend the range of known KCNQ1 mutations associated with both recessive and dominant for...	DisGeNET	Detail
The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result i...	DisGeNET	Detail
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, geneal...	DisGeNET	Detail
An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsense mutations p.Arg51...	DisGeNET	Detail
These data extend the range of known KCNQ1 mutations associated with both recessive and dominant for...	DisGeNET	Detail
The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrom...	DisGeNET	Detail
An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsense mutations p.Arg51...	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: rs17215500 dbSNP
Genome: hg38
Position: chr11:2,768,881-2,768,881
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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