rs120074184
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs120074184(A;A) |
| Make rs120074184(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2583453 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074184 |
| dbSNP (classic) | rs120074184 |
| ClinGen | rs120074184 |
| ebi | rs120074184 |
| HLI | rs120074184 |
| Exac | rs120074184 |
| Gnomad | rs120074184 |
| Varsome | rs120074184 |
| LitVar | rs120074184 |
| Map | rs120074184 |
| PheGenI | rs120074184 |
| Biobank | rs120074184 |
| 1000 genomes | rs120074184 |
| hgdp | rs120074184 |
| ensembl | rs120074184 |
| geneview | rs120074184 |
| scholar | rs120074184 |
| rs120074184 | |
| pharmgkb | rs120074184 |
| gwascentral | rs120074184 |
| openSNP | rs120074184 |
| 23andMe | rs120074184 |
| SNPshot | rs120074184 |
| SNPdbe | rs120074184 |
| MSV3d | rs120074184 |
| GWAS Ctlg | rs120074184 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074184(A;A) rs120074184(C;C) rs120074184(T;T) |
| Alt | rs120074184(A;A) rs120074184(C;C) rs120074184(T;T) |
| Reference | Rs120074184(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2604683G>A; NC_000011.9:g.2604683G>C; NC_000011.9:g.2604683G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003271.2, RCV000046167.2, RCV000057810.3, RCV000182137.3, RCV000046168.2, RCV000057811.3, RCV000046169.2, RCV000057812.3, |
[PMID 8872472] KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12702160
] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
[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 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
