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rs199472944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472944(C;T)
Make rs199472944(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951552
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472944
ClinGenrs199472944
ebirs199472944
HLIrs199472944
Exacrs199472944
Varsomers199472944
Maprs199472944
PheGenIrs199472944
hapmaprs199472944
1000 genomesrs199472944
hgdprs199472944
ensemblrs199472944
gopubmedrs199472944
geneviewrs199472944
scholarrs199472944
googlers199472944
pharmgkbrs199472944
gwascentralrs199472944
openSNPrs199472944
23andMers199472944
23andMe allrs199472944
SNP Nexus

SNPshotrs199472944
SNPdbers199472944
MSV3drs199472944
GWAS Ctlgrs199472944
Max Magnitude0
ClinVar
Risk rs199472944(T;T)
Alt rs199472944(T;T)
Reference Rs199472944(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.150648640G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022643.26, RCV000058010.3, RCV000254785.1,


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


[PMID 9544837] Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.


[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.


[PMID 9927399] Low penetrance in the long-QT syndrome: clinical impact.


[PMID 10560244] Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.


[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.