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rs121912506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912506(A;A)
Make rs121912506(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150948984
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912506
ebirs121912506
HLIrs121912506
Exacrs121912506
Varsomers121912506
Maprs121912506
PheGenIrs121912506
hapmaprs121912506
1000 genomesrs121912506
hgdprs121912506
ensemblrs121912506
gopubmedrs121912506
geneviewrs121912506
scholarrs121912506
googlers121912506
pharmgkbrs121912506
gwascentralrs121912506
openSNPrs121912506
23andMers121912506
23andMe allrs121912506
SNP Nexus

SNPshotrs121912506
SNPdbers121912506
MSV3drs121912506
GWAS Ctlgrs121912506
Max Magnitude0
OMIM152427
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912506(A,C;A,C)
Alt rs121912506(A,C;A,C)
Reference rs121912506(G;G)
Significance Pathogenic
Disease not provided Long QT syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN not provided Long QT syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150646072C>G; NC_000007.13:g.150646072C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000181866.1, RCV000015505.25, RCV000058125.2,


[PMID 164320] Species differences in the hormonal control of lipogenesis in rat and chicken hepatocytes.


[PMID 8914737] Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.


[PMID 10086971] C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.


[PMID 11222472] Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.


[PMID 11854117] Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.


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