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rs121912508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912508(C;T)
Make rs121912508(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951649
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912508
ebirs121912508
HLIrs121912508
Exacrs121912508
Varsomers121912508
Maprs121912508
PheGenIrs121912508
hapmaprs121912508
1000 genomesrs121912508
hgdprs121912508
ensemblrs121912508
gopubmedrs121912508
geneviewrs121912508
scholarrs121912508
googlers121912508
pharmgkbrs121912508
gwascentralrs121912508
openSNPrs121912508
23andMers121912508
23andMe allrs121912508
SNP Nexus

SNPshotrs121912508
SNPdbers121912508
MSV3drs121912508
GWAS Ctlgrs121912508
Max Magnitude0
OMIM152427
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912508(T;T)
Alt rs121912508(T;T)
Reference rs121912508(C;C)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015509.26, RCV000057970.2, RCV000181815.2,


[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.


[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.


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


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


[PMID 12566525OA-icon.png] The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.


[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.