rs120074190
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs120074190(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2778009 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074190 |
dbSNP (classic) | rs120074190 |
ClinGen | rs120074190 |
ebi | rs120074190 |
HLI | rs120074190 |
Exac | rs120074190 |
Gnomad | rs120074190 |
Varsome | rs120074190 |
LitVar | rs120074190 |
Map | rs120074190 |
PheGenI | rs120074190 |
Biobank | rs120074190 |
1000 genomes | rs120074190 |
hgdp | rs120074190 |
ensembl | rs120074190 |
geneview | rs120074190 |
scholar | rs120074190 |
rs120074190 | |
pharmgkb | rs120074190 |
gwascentral | rs120074190 |
openSNP | rs120074190 |
23andMe | rs120074190 |
SNPshot | rs120074190 |
SNPdbe | rs120074190 |
MSV3d | rs120074190 |
GWAS Ctlg | rs120074190 |
Max Magnitude | 5 |
aka c.1766G>A (p.Gly589Asp), G589D
This mutation in the KCNQ1 gene is considered one of four founder mutations among people from Finland associated with Long QT syndrome (LQTS).[PMID 19160088]
23andMe name: i5004485
ClinVar | |
---|---|
Risk | rs120074190(A;A) |
Alt | rs120074190(A;A) |
Reference | Rs120074190(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2799239G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003288.3, RCV000003289.3, RCV000057633.3, RCV000182223.3, |
[PMID 19160] [Properties of chlorotetrolic acid and its ester as possible protein acetylenic reagents].
[PMID 10483966] Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
[PMID 11216980] A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
[PMID 12477631] Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation.
[PMID 12690509] Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
[PMID 17329209] A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila.