Have questions? Visit https://www.reddit.com/r/SNPedia

rs199472942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472942(C;C)
Make rs199472942(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951562
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472942
ebirs199472942
HLIrs199472942
Exacrs199472942
Varsomers199472942
Maprs199472942
PheGenIrs199472942
hapmaprs199472942
1000 genomesrs199472942
hgdprs199472942
ensemblrs199472942
gopubmedrs199472942
geneviewrs199472942
scholarrs199472942
googlers199472942
pharmgkbrs199472942
gwascentralrs199472942
openSNPrs199472942
23andMers199472942
23andMe allrs199472942
SNP Nexus

SNPshotrs199472942
SNPdbers199472942
MSV3drs199472942
GWAS Ctlgrs199472942
Max Magnitude0
ClinVar
Risk rs199472942(C,G;C,G)
Alt rs199472942(C,G;C,G)
Reference rs199472942(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150648650A>C; NC_000007.13:g.150648650A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000058007.2, RCV000190215.1, RCV000022644.25, RCV000058006.2,


[PMID 9024139] Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.


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


[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.


[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.


[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.