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.
