chr7:150951711:G>A Detail (hg38) (KCNH2)

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

Genome

Assembly	Position
hg19	chr7:150,648,799-150,648,799 View the variant detail on this assembly version.
hg38	chr7:150,951,711-150,951,711

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1682C>T	NP_000229.1:p.Ala561Val
	NM_172057.2:c.662C>T	NP_742054.1:p.Ala221Val
Ensemble	ENST00000262186.10:c.1682C>T	ENST00000262186.10:p.Ala561Val
	ENST00000330883.9:c.662C>T	ENST00000330883.9:p.Ala221Val
	ENST00000713701.1:c.1382C>T	ENST00000713701.1:p.Ala461Val
	ENST00000713710.1:c.1682C>T	ENST00000713710.1:p.Ala561Val

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

KCNH2

Type	Database	ID	Link
Gene	MIM	152427	OMIM
	HGNC	6251	HGNC
	Ensembl	ENSG00000055118	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1211475	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
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-04-14	no assertion criteria provided	long QT syndrome 2	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2021-12-17	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	long QT syndrome	germline	Detail
Pathogenic	2022-05-03	criteria provided, single submitter		germline	Detail
Likely pathogenic	2017-01-01	criteria provided, single submitter	obesity	unknown	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	long QT syndrome 2	We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs us...	BeFree	24623279	Detail
0.132	Congenital long QT syndrome	NA	CLINVAR		Detail
0.361	long QT syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Long QT syndrome 2	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Congenital long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Cardiovascular phenotype	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND multiple conditions	ClinVar	Detail
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) AND Cardiac arrhythmia	ClinVar	Detail
We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free r...	DisGeNET	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: rs121912504 dbSNP
Genome: hg38
Position: chr7:150,951,711-150,951,711
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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