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rs121912511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912511(A;C)
Make rs121912511(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position150974825
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912511
ebirs121912511
HLIrs121912511
Exacrs121912511
Varsomers121912511
Maprs121912511
PheGenIrs121912511
hapmaprs121912511
1000 genomesrs121912511
hgdprs121912511
ensemblrs121912511
gopubmedrs121912511
geneviewrs121912511
scholarrs121912511
googlers121912511
pharmgkbrs121912511
gwascentralrs121912511
openSNPrs121912511
23andMers121912511
23andMe allrs121912511
SNP Nexus

SNPshotrs121912511
SNPdbers121912511
MSV3drs121912511
GWAS Ctlgrs121912511
Merged fromRs28933095
Max Magnitude0
OMIM152427
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912511(C;C)
Alt rs121912511(C;C)
Reference rs121912511(A;A)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671913T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015515.25, RCV000058063.2,


[PMID 12354768] A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.


[PMID 21661061] An NMR study of the N-terminal domain of wild-type hERG and a T65P trafficking deficient hERG mutant.