rs794728455
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;G) | 4 | Potential cardiac arrhythmia, or, Long QT syndrome |
Make rs794728455(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150947795 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728455 |
dbSNP (classic) | rs794728455 |
ClinGen | rs794728455 |
ebi | rs794728455 |
HLI | rs794728455 |
Exac | rs794728455 |
Gnomad | rs794728455 |
Varsome | rs794728455 |
LitVar | rs794728455 |
Map | rs794728455 |
PheGenI | rs794728455 |
Biobank | rs794728455 |
1000 genomes | rs794728455 |
hgdp | rs794728455 |
ensembl | rs794728455 |
geneview | rs794728455 |
scholar | rs794728455 |
rs794728455 | |
pharmgkb | rs794728455 |
gwascentral | rs794728455 |
openSNP | rs794728455 |
23andMe | rs794728455 |
SNPshot | rs794728455 |
SNPdbe | rs794728455 |
MSV3d | rs794728455 |
GWAS Ctlg | rs794728455 |
Max Magnitude | 4 |
c.2775dupG (p.Pro926Alafs)
Designated in ClinVar by a single source as pathogenic for an unspecified "cardiac phenotype". Most clinically significant KCNH2 gene mutations are dominantly inherited mutations leading to Long QT syndrome, but the "cardiac phenotype" designation could also refer to a cardiac arrhythmia.
ClinVar | |
---|---|
Risk | rs794728455(G;G) |
Alt | rs794728455(G;G) |
Reference | Rs794728455(-;-) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome Cardiovascular phenotype |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided Long QT syndrome Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000007.13:g.150644884dupC |
CLNSRC | |
CLNACC | RCV000181993.3, RCV000204205.3, RCV000249424.1, |