rs199473480
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) |
Make rs199473480(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2776006 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473480 |
dbSNP (classic) | rs199473480 |
ClinGen | rs199473480 |
ebi | rs199473480 |
HLI | rs199473480 |
Exac | rs199473480 |
Gnomad | rs199473480 |
Varsome | rs199473480 |
LitVar | rs199473480 |
Map | rs199473480 |
PheGenI | rs199473480 |
Biobank | rs199473480 |
1000 genomes | rs199473480 |
hgdp | rs199473480 |
ensembl | rs199473480 |
geneview | rs199473480 |
scholar | rs199473480 |
rs199473480 | |
pharmgkb | rs199473480 |
gwascentral | rs199473480 |
openSNP | rs199473480 |
23andMe | rs199473480 |
SNPshot | rs199473480 |
SNPdbe | rs199473480 |
MSV3d | rs199473480 |
GWAS Ctlg | rs199473480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473480(T;T) |
Alt | rs199473480(T;T) |
Reference | Rs199473480(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2797236C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000046008.3, RCV000057608.3, RCV000174453.1, RCV000182209.3, |
Associated with inherited long QT syndrome (LQTS).
[PMID 25037568] Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
[PMID 22581653] Paralogous annotation of disease-causing variants in long QT syndrome genes.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
[PMID 19808498] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.