chr7:150958449: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	chr7:150,655,537-150,655,537 View the variant detail on this assembly version.
hg38	chr7:150,958,449-150,958,449

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.526C>T	NP_000229.1:p.Arg176Trp
Ensemble	ENST00000262186.10:c.526C>T	ENST00000262186.10:p.Arg176Trp
	ENST00000713701.1:c.226C>T	ENST00000713701.1:p.Arg76Trp
	ENST00000713710.1:c.526C>T	ENST00000713710.1:p.Arg176Trp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	tgv353164656	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-03-01	criteria provided, conflicting interpretations	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2022-05-31	criteria provided, conflicting interpretations	long QT syndrome 2	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-10-31	criteria provided, conflicting interpretations	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-31	criteria provided, conflicting interpretations	long QT syndrome	germline paternal	Detail
Uncertain significance	2023-05-30	criteria provided, single submitter		germline	Detail
Uncertain significance	2019-01-21	criteria provided, single submitter	Short QT syndrome type 1	unknown	Detail
Uncertain significance	2022-04-08	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Acquired long QT syndrome	DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G...	BeFree	17467628	Detail
0.121	Acquired long QT syndrome	DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G...	BeFree	17467628	Detail
0.417	long QT syndrome	A total of six compound heterozygotes were identified who had the HERG R176W mut...	BeFree	16754261	Detail
0.361	long QT syndrome 2	NA	CLINVAR		Detail
0.388	long QT syndrome	NA	CLINVAR		Detail
0.388	long QT syndrome	The HERG R176W mutation represents a population-prevalent mutation predisposing ...	BeFree	16754261	Detail
0.361	long QT syndrome 2	Survey of the coding region of the HERG gene in long QT syndrome reveals six nov...	UNIPROT	10862094	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Long QT syndrome 2	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND not specified	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Short QT syndrome type 1	ClinVar	Detail
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND See cases	ClinVar	Detail
DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A--&g...	DisGeNET	Detail
DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A--&g...	DisGeNET	Detail
A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The HERG R176W mutation represents a population-prevalent mutation predisposing to LQTS.	DisGeNET	Detail
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an ...	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: rs36210422 dbSNP
Genome: hg38
Position: chr7:150,958,449-150,958,449
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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