chr7:150951544:A>G 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	chr7:150,648,632-150,648,632 View the variant detail on this assembly version.
hg38	chr7:150,951,544-150,951,544

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1849T>C	NP_000229.1:p.Phe617Leu
	NM_172057.2:c.829T>C	NP_742054.1:p.Phe277Leu
Ensemble	ENST00000262186.10:c.1849T>C	ENST00000262186.10:p.Phe617Leu
	ENST00000330883.9:c.829T>C	ENST00000330883.9:p.Phe277Leu
	ENST00000713701.1:c.1549T>C	ENST00000713701.1:p.Phe517Leu
	ENST00000713710.1:c.1849T>C	ENST00000713710.1:p.Phe617Leu

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic	2017/03/30	long QT syndrome 2 (LQT2)	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-03-06	criteria provided, single submitter	long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) AND 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: rs796052195 dbSNP
Genome: hg38
Position: chr7:150,951,544-150,951,544
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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