chr7:150648023:T>C Detail (hg19) (KCNH2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr7:150,648,023-150,648,023
hg38	chr7:150,950,935-150,950,935 View the variant detail on this assembly version.

HGVS

KCNH2

Type	Transcript	Protein
RefSeq	NM_000238.3:c.2131A>G	NP_000229.1:p.Ile711Val
	NM_172057.2:c.1111A>G	NP_742054.1:p.Ile371Val
Ensemble	ENST00000262186.10:c.2131A>G	ENST00000262186.10:p.Ile711Val
	ENST00000330883.9:c.1111A>G	ENST00000330883.9:p.Ile371Val
	ENST00000713701.1:c.1831A>G	ENST00000713701.1:p.Ile611Val
	ENST00000713710.1:c.2065A>G	ENST00000713710.1:p.Ile689Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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

[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
Uncertain significance	2023-12-13	criteria provided, multiple submitters, no conflicts	long QT syndrome	germline	Detail
Uncertain significance	2023-05-09	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2023-03-20	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Uncertain significance	2021-07-26	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
0.388	long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Congenital long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Long QT syndrome	ClinVar	Detail
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND not provided	ClinVar	Detail
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Cardiac arrhythmia	ClinVar	Detail
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	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: rs199473532 dbSNP
Genome: hg19
Position: chr7:150,648,023-150,648,023
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8642
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121100
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.3030553261767136E-5

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