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rs121912510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912510(C;T)
Make rs121912510(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150948995
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912510
ebirs121912510
HLIrs121912510
Exacrs121912510
Varsomers121912510
Maprs121912510
PheGenIrs121912510
hapmaprs121912510
1000 genomesrs121912510
hgdprs121912510
ensemblrs121912510
gopubmedrs121912510
geneviewrs121912510
scholarrs121912510
googlers121912510
pharmgkbrs121912510
gwascentralrs121912510
openSNPrs121912510
23andMers121912510
23andMe allrs121912510
SNP Nexus

SNPshotrs121912510
SNPdbers121912510
MSV3drs121912510
GWAS Ctlgrs121912510
Max Magnitude0
OMIM152427
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912510(T;T)
Alt rs121912510(T;T)
Reference rs121912510(C;C)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150646083G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015513.21, RCV000058123.2,


[PMID 18441OA-icon.png] Enzymatic reduction of mercurous ions in Escherichia coli bearing R factor.


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


[PMID 10996323] Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.


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


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


[PMID 16831322] [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].