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rs121912507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912507(A;A)
Make rs121912507(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951511
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912507
ebirs121912507
HLIrs121912507
Exacrs121912507
Varsomers121912507
Maprs121912507
PheGenIrs121912507
hapmaprs121912507
1000 genomesrs121912507
hgdprs121912507
ensemblrs121912507
gopubmedrs121912507
geneviewrs121912507
scholarrs121912507
googlers121912507
pharmgkbrs121912507
gwascentralrs121912507
openSNPrs121912507
23andMers121912507
23andMe allrs121912507
SNP Nexus

SNPshotrs121912507
SNPdbers121912507
MSV3drs121912507
GWAS Ctlgrs121912507
Max Magnitude0
OMIM152427
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912507(A,C;A,C)
Alt rs121912507(A,C;A,C)
Reference rs121912507(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.150648599C>G; NC_000007.13:g.150648599C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000182035.1, RCV000015508.25, RCV000058029.2, RCV000223848.1,


[PMID 163795OA-icon.png] Response of irradiated mice to live-virus (TC-83) immunization.


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


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


[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 14998624] Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.


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