rs104894021
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894021(C;G) |
Make rs104894021(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 150951629 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894021 |
dbSNP (classic) | rs104894021 |
ClinGen | rs104894021 |
ebi | rs104894021 |
HLI | rs104894021 |
Exac | rs104894021 |
Gnomad | rs104894021 |
Varsome | rs104894021 |
LitVar | rs104894021 |
Map | rs104894021 |
PheGenI | rs104894021 |
Biobank | rs104894021 |
1000 genomes | rs104894021 |
hgdp | rs104894021 |
ensembl | rs104894021 |
geneview | rs104894021 |
scholar | rs104894021 |
rs104894021 | |
pharmgkb | rs104894021 |
gwascentral | rs104894021 |
openSNP | rs104894021 |
23andMe | rs104894021 |
SNPshot | rs104894021 |
SNPdbe | rs104894021 |
MSV3d | rs104894021 |
GWAS Ctlg | rs104894021 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894021(A;A) rs104894021(G;G) |
Alt | rs104894021(A;A) rs104894021(G;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 UniProtKB (protein) |
CLNACC | RCV000015517.27, RCV000057981.3, RCV000015518.23, RCV000057980.3, |
[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 19501051] hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome.