chr7:150648703:A>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	chr7:150,648,703-150,648,703
hg38	chr7:150,951,615-150,951,615 View the variant detail on this assembly version.

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.1778T>A	NP_000229.1:p.Ile593Lys
	NM_172057.2:c.758T>A	NP_742054.1:p.Ile253Lys
Ensemble	ENST00000262186.10:c.1778T>A	ENST00000262186.10:p.Ile593Lys
	ENST00000330883.9:c.758T>A	ENST00000330883.9:p.Ile253Lys
	ENST00000713701.1:c.1478T>A	ENST00000713701.1:p.Ile493Lys
	ENST00000713710.1:c.1778T>A	ENST00000713710.1:p.Ile593Lys

Summary

MGeND

Clinical significance
Variant entry
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

[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
Pathogenic	2017-07-10	criteria provided, single submitter	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
0.361	long QT syndrome 2	NA	CLINVAR		Detail
0.361	long QT syndrome 2	Missense mutation in the pore region of HERG causes familial long QT syndrome.	UNIPROT	8635257	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) AND Congenital long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) AND Long QT syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Missense mutation in the pore region of HERG causes familial 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: rs28928904 dbSNP
Genome: hg19
Position: chr7:150,648,703-150,648,703
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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