chr7:150656789:C>T Detail (hg19) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,656,789-150,656,789
hg38 chr7:150,959,701-150,959,701 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.343G>A NP_000229.1:p.Val115Met
Ensemble ENST00000262186.10:c.343G>A ENST00000262186.10:p.Val115Met
ENST00000713701.1:c.43G>A ENST00000713701.1:p.Val15Met
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
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 COSM3431377 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 2014-06-01 no assertion criteria provided long QT syndrome 2 germline Detail
Uncertain significance 2023-09-06 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Uncertain significance 2021-05-20 criteria provided, single submitter germline Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Short QT syndrome type 1,long QT syndrome 2 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Short QT syndrome type 1,long QT syndrome 2 unknown Detail
Uncertain significance 2023-04-03 criteria provided, single submitter Cardiac arrhythmia 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
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND Congenital long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND Long QT syndrome ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND Cardiovascular phenotype ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND multiple conditions ClinVar Detail
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) AND Cardiac arrhythmia 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
rs150988911 dbSNP
Genome
hg19
Position
chr7:150,656,789-150,656,789
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121256
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4741043742165335E-5
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