rs120074189
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Romano-Ward Long QT Syndrome |
| Make rs120074189(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2778003 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074189 |
| dbSNP (classic) | rs120074189 |
| ClinGen | rs120074189 |
| ebi | rs120074189 |
| HLI | rs120074189 |
| Exac | rs120074189 |
| Gnomad | rs120074189 |
| Varsome | rs120074189 |
| LitVar | rs120074189 |
| Map | rs120074189 |
| PheGenI | rs120074189 |
| Biobank | rs120074189 |
| 1000 genomes | rs120074189 |
| hgdp | rs120074189 |
| ensembl | rs120074189 |
| geneview | rs120074189 |
| scholar | rs120074189 |
| rs120074189 | |
| pharmgkb | rs120074189 |
| gwascentral | rs120074189 |
| openSNP | rs120074189 |
| 23andMe | rs120074189 |
| SNPshot | rs120074189 |
| SNPdbe | rs120074189 |
| MSV3d | rs120074189 |
| GWAS Ctlg | rs120074189 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs120074189(T;T) |
| Alt | rs120074189(T;T) |
| Reference | Rs120074189(C;C) |
| Significance | Pathogenic |
| Disease | Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2799233C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003286.6, RCV000046026.3, RCV000057632.3, RCV000182221.3, |
[PMID 173292
] Oxidase-peroxidase enzymes of Datura innoxia. Oxidation of reduced nicotinamide-adenine dinucleotide in the presence of formylphenylacetic acid ethyl ester.
[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
[PMID 10024302] Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
[PMID 11162126] Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
[PMID 12702160] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
