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rs121912504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912504(C;T)
Make rs121912504(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951711
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912504
ebirs121912504
HLIrs121912504
Exacrs121912504
Varsomers121912504
Maprs121912504
PheGenIrs121912504
hapmaprs121912504
1000 genomesrs121912504
hgdprs121912504
ensemblrs121912504
gopubmedrs121912504
geneviewrs121912504
scholarrs121912504
googlers121912504
pharmgkbrs121912504
gwascentralrs121912504
openSNPrs121912504
23andMers121912504
23andMe allrs121912504
SNP Nexus

SNPshotrs121912504
SNPdbers121912504
MSV3drs121912504
GWAS Ctlgrs121912504
Max Magnitude0
OMIM152427
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912504(T;T)
Alt rs121912504(T;T)
Reference rs121912504(C;C)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome not provided Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648799G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015501.21, RCV000057941.2, RCV000181806.2, RCV000229360.1,


[PMID 1166863] Operative management of early invasive epidermoid carcinoma of the vulva.


[PMID 7889573] A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.


[PMID 9927399] Low penetrance in the long-QT syndrome: clinical impact.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 11113008] Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome.


[PMID 11468227] Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.