chr7:150951721:C>G Detail (hg38) (KCNH2)

Information

Genome

Assembly Position
hg19 chr7:150,648,809-150,648,809 View the variant detail on this assembly version.
hg38 chr7:150,951,721-150,951,721

HGVS

Type Transcript Protein
RefSeq NM_000238.3:c.1672G>C NP_000229.1:p.Ala558Pro
NM_172057.2:c.652G>C NP_742054.1:p.Ala218Pro
Ensemble ENST00000262186.10:c.1672G>C ENST00000262186.10:p.Ala558Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-07-01 no assertion criteria provided long QT syndrome 2 germline Detail
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
0.361 long QT syndrome 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) AND Long QT syndrome 2 ClinVar Detail
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) AND Congenital long QT syndrome 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
rs121912516 dbSNP
Genome
hg38
Position
chr7:150,951,721-150,951,721
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser