rs199472815
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | LQT1 form of Long QT syndrome |
(G;G) | 0 | common in clinvar |
Make rs199472815(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2778024 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472815 |
dbSNP (classic) | rs199472815 |
ClinGen | rs199472815 |
ebi | rs199472815 |
HLI | rs199472815 |
Exac | rs199472815 |
Gnomad | rs199472815 |
Varsome | rs199472815 |
LitVar | rs199472815 |
Map | rs199472815 |
PheGenI | rs199472815 |
Biobank | rs199472815 |
1000 genomes | rs199472815 |
hgdp | rs199472815 |
ensembl | rs199472815 |
geneview | rs199472815 |
scholar | rs199472815 |
rs199472815 | |
pharmgkb | rs199472815 |
gwascentral | rs199472815 |
openSNP | rs199472815 |
23andMe | rs199472815 |
SNPshot | rs199472815 |
SNPdbe | rs199472815 |
MSV3d | rs199472815 |
GWAS Ctlg | rs199472815 |
Max Magnitude | 5 |
aka c.1400G>A (p.Arg467Gln) but in some literature c.1781G>A
Considered pathogenic for Long QT syndrome, but in at least one publication, also noted as of low penetrance [PMID 30609406]
ClinVar | |
---|---|
Risk | rs199472815(A;A) rs199472815(C;C) |
Alt | rs199472815(A;A) rs199472815(C;C) |
Reference | Rs199472815(G;G) |
Significance | Other |
Disease | Long QT syndrome Congenital long QT syndrome not provided Cardiovascular phenotype |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome Congenital long QT syndrome not provided Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000011.9:g.2799254G>A; NC_000011.9:g.2799254G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000046031.5, RCV000057637.3, RCV000182228.3, RCV000247524.1, RCV000046032.3, RCV000057638.3, RCV000182324.3, |
[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.
[PMID 17224687] Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.