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rs104894021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894021(C;G)
Make rs104894021(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951629
GeneKCNH2
is asnp
is mentioned by
dbSNPrs104894021
ebirs104894021
HLIrs104894021
Exacrs104894021
Varsomers104894021
Maprs104894021
PheGenIrs104894021
hapmaprs104894021
1000 genomesrs104894021
hgdprs104894021
ensemblrs104894021
gopubmedrs104894021
geneviewrs104894021
scholarrs104894021
googlers104894021
pharmgkbrs104894021
gwascentralrs104894021
openSNPrs104894021
23andMers104894021
23andMe allrs104894021
SNP Nexus

SNPshotrs104894021
SNPdbers104894021
MSV3drs104894021
GWAS Ctlgrs104894021
Max Magnitude0
OMIM152427
Desc
Variant0018
Relatedalso
OMIM152427
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894021(A,G;A,G)
Alt rs104894021(A,G;A,G)
Reference rs104894021(C;C)
Significance Pathogenic
Disease Short QT syndrome 1 short QT syndrome
Variation info
Gene KCNH2
CLNDBN Short QT syndrome 1 short QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648717G>C; NC_000007.13:g.150648717G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015517.25, RCV000057981.2, RCV000015518.21, RCV000057980.2,


[PMID 14676148] Sudden death associated with short-QT syndrome linked to mutations in HERG.


[PMID 15828882] Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.


[PMID 19088443] Biophysical characterization of the short QT mutation hERG-N588K reveals a mixed gain-and loss-of-function.


[PMID 19439805] Comparative effects of the short QT N588K mutation at 37 degrees C on hERG K+ channel current during ventricular, Purkinje fibre and atrial action potentials: an action potential clamp study.


[PMID 19501051OA-icon.png] hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome.