chr7:150648599:C>T Detail (hg19) (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	chr7:150,648,599-150,648,599
hg38	chr7:150,951,511-150,951,511 View the variant detail on this assembly version.

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1882G>A	NP_000229.1:p.Gly628Ser
	NM_172057.2:c.862G>A	NP_742054.1:p.Gly288Ser
Ensemble	ENST00000262186.10:c.1882G>A	ENST00000262186.10:p.Gly628Ser
	ENST00000330883.9:c.862G>A	ENST00000330883.9:p.Gly288Ser
	ENST00000713701.1:c.1582G>A	ENST00000713701.1:p.Gly528Ser
	ENST00000713710.1:c.1882G>A	ENST00000713710.1:p.Gly628Ser

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
	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 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-02-02	criteria provided, multiple submitters, no conflicts	long QT syndrome 2	germline unknown	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2016-02-25	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-07-20	criteria provided, single submitter	long QT syndrome	germline	Detail
Pathogenic	2018-06-08	criteria provided, single submitter		germline	Detail
Pathogenic	2022-08-29	criteria provided, single submitter	KCNH2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.132	Congenital long QT syndrome	NA	CLINVAR		Detail
0.361	long QT syndrome 2	NA	CLINVAR		Detail
0.388	long QT syndrome	Isoform-specific dominant-negative effects associated with hERG1 G628S mutation ...	BeFree	22876326	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND Long QT syndrome 2	ClinVar	Detail
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND Congenital long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND Cardiovascular phenotype	ClinVar	Detail
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) AND KCNH2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.	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: rs121912507 dbSNP
Genome: hg19
Position: chr7:150,648,599-150,648,599
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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