chr7:150647424:G>A Detail (hg19) (KCNH2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:150,647,424-150,647,424
hg38	chr7:150,950,336-150,950,336 View the variant detail on this assembly version.

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.2230C>T	NP_000229.1:p.Arg744Ter
	NM_172057.2:c.1210C>T	NP_742054.1:p.Arg404Ter
Ensemble	ENST00000262186.10:c.2230C>T	ENST00000262186.10:p.Arg744Ter
	ENST00000330883.9:c.1210C>T	ENST00000330883.9:p.Arg404Ter
	ENST00000713701.1:c.1930C>T	ENST00000713701.1:p.Arg644Ter
	ENST00000713710.1:c.2164C>T	ENST00000713710.1:p.Arg722Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-05-23	criteria provided, multiple submitters, no conflicts	long QT syndrome 2	germline unknown	Detail
Pathogenic	2021-09-23	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline maternal	Detail
Pathogenic	2020-11-05	criteria provided, single submitter		germline	Detail
Pathogenic	2018-07-25	criteria provided, single submitter	Congenital long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	long QT syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND Long QT syndrome 2	ClinVar	Detail
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND Cardiovascular phenotype	ClinVar	Detail
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND Congenital long QT syndrome	ClinVar	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: rs189014161 dbSNP
Genome: hg19
Position: chr7:150,647,424-150,647,424
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser