chr7:150649832:A>G 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	chr7:150,649,832-150,649,832
hg38	chr7:150,952,744-150,952,744 View the variant detail on this assembly version.

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1238T>C	NP_000229.1:p.Leu413Pro
	NM_172057.2:c.218T>C	NP_742054.1:p.Leu73Pro
Ensemble	ENST00000262186.10:c.1238T>C	ENST00000262186.10:p.Leu413Pro
	ENST00000330883.9:c.218T>C	ENST00000330883.9:p.Leu73Pro
	ENST00000713701.1:c.938T>C	ENST00000713701.1:p.Leu313Pro
	ENST00000713710.1:c.1238T>C	ENST00000713710.1:p.Leu413Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.132	Congenital long QT syndrome	NA	CLINVAR		Detail
0.006	cardiac event	Excitement, exercises, and stress appear to be the triggers for developing cardi...	BeFree	12442276	Detail
0.007	cardiac event	Excitement, exercises, and stress appear to be the triggers for developing cardi...	BeFree	12442276	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1238T>C (p.Leu413Pro) AND Congenital long QT syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ...	DisGeNET	Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ...	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: rs199472893 dbSNP
Genome: hg19
Position: chr7:150,649,832-150,649,832
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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