rs137854600
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs137854600(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38551504 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854600 |
| dbSNP (classic) | rs137854600 |
| ClinGen | rs137854600 |
| ebi | rs137854600 |
| HLI | rs137854600 |
| Exac | rs137854600 |
| Gnomad | rs137854600 |
| Varsome | rs137854600 |
| LitVar | rs137854600 |
| Map | rs137854600 |
| PheGenI | rs137854600 |
| Biobank | rs137854600 |
| 1000 genomes | rs137854600 |
| hgdp | rs137854600 |
| ensembl | rs137854600 |
| geneview | rs137854600 |
| scholar | rs137854600 |
| rs137854600 | |
| pharmgkb | rs137854600 |
| gwascentral | rs137854600 |
| openSNP | rs137854600 |
| 23andMe | rs137854600 |
| SNPshot | rs137854600 |
| SNPdbe | rs137854600 |
| MSV3d | rs137854600 |
| GWAS Ctlg | rs137854600 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs137854600(A;A) rs137854600(T;T) |
| Alt | rs137854600(A;A) rs137854600(T;T) |
| Reference | Rs137854600(G;G) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Long QT syndrome 3 Long qt syndrome 3/6 |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Congenital long QT syndrome Long QT syndrome 3 Long qt syndrome 3/6, digenic |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592995C>A; NC_000003.11:g.38592995C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000058717.3, RCV000009970.5, RCV000009971.3, RCV000058716.3, |
[PMID 1505163] The creatine kinase system in the serum of runners following a doubling of training mileage.
[PMID 9495298] Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.
[PMID 9506831] A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
[PMID 10200053] A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12574983] Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome 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.
