chr7:150951552: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	chr7:150,648,640-150,648,640 View the variant detail on this assembly version.
hg38	chr7:150,951,552-150,951,552

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1841C>T	NP_000229.1:p.Ala614Val
	NM_172057.2:c.821C>T	NP_742054.1:p.Ala274Val
Ensemble	ENST00000262186.10:c.1841C>T	ENST00000262186.10:p.Ala614Val
	ENST00000330883.9:c.821C>T	ENST00000330883.9:p.Ala274Val
	ENST00000713701.1:c.1541C>T	ENST00000713701.1:p.Ala514Val
	ENST00000713710.1:c.1841C>T	ENST00000713710.1:p.Ala614Val

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 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-10-19	criteria provided, multiple submitters, no conflicts	long QT syndrome 2	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2022-01-13	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-10-21	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline	Detail
Pathogenic	2021-04-10	criteria provided, single submitter		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
0.132	Congenital long QT syndrome	Here we report the development of a patient/disease-specific human iPSC line fro...	BeFree	21240260	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Long QT syndrome 2	ClinVar	Detail
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Congenital long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Here we report the development of a patient/disease-specific human iPSC line from a patient with typ...	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: rs199472944 dbSNP
Genome: hg38
Position: chr7:150,951,552-150,951,552
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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