rs74315445
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74315445(A;A) |
| Make rs74315445(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34449409 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315445 |
| dbSNP (classic) | rs74315445 |
| ClinGen | rs74315445 |
| ebi | rs74315445 |
| HLI | rs74315445 |
| Exac | rs74315445 |
| Gnomad | rs74315445 |
| Varsome | rs74315445 |
| LitVar | rs74315445 |
| Map | rs74315445 |
| PheGenI | rs74315445 |
| Biobank | rs74315445 |
| 1000 genomes | rs74315445 |
| hgdp | rs74315445 |
| ensembl | rs74315445 |
| geneview | rs74315445 |
| scholar | rs74315445 |
| rs74315445 | |
| pharmgkb | rs74315445 |
| gwascentral | rs74315445 |
| openSNP | rs74315445 |
| 23andMe | rs74315445 |
| SNPshot | rs74315445 |
| SNPdbe | rs74315445 |
| MSV3d | rs74315445 |
| GWAS Ctlg | rs74315445 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315445(A;A) |
| Alt | rs74315445(A;A) |
| Reference | Rs74315445(G;G) |
| Significance | Other |
| Disease | Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Cardiovascular phenotype Long QT syndrome |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Cardiovascular phenotype Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000021.8:g.35821707C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014419.24, RCV000014420.25, RCV000119080.1, RCV000148512.1, RCV000222568.2, RCV000243273.1, RCV000471399.1, |
[PMID 9354783] KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
[PMID 9354802] Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
[PMID 9445165] Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 16818210] Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
