rs121912506
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs121912506(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150948984 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912506 |
| dbSNP (classic) | rs121912506 |
| ClinGen | rs121912506 |
| ebi | rs121912506 |
| HLI | rs121912506 |
| Exac | rs121912506 |
| Gnomad | rs121912506 |
| Varsome | rs121912506 |
| LitVar | rs121912506 |
| Map | rs121912506 |
| PheGenI | rs121912506 |
| Biobank | rs121912506 |
| 1000 genomes | rs121912506 |
| hgdp | rs121912506 |
| ensembl | rs121912506 |
| geneview | rs121912506 |
| scholar | rs121912506 |
| rs121912506 | |
| pharmgkb | rs121912506 |
| gwascentral | rs121912506 |
| openSNP | rs121912506 |
| 23andMe | rs121912506 |
| SNPshot | rs121912506 |
| SNPdbe | rs121912506 |
| MSV3d | rs121912506 |
| GWAS Ctlg | rs121912506 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs121912506(A;A) rs121912506(C;C) |
| Alt | rs121912506(A;A) rs121912506(C;C) |
| Reference | Rs121912506(G;G) |
| Significance | Pathogenic |
| Disease | not provided Long QT syndrome 2 Congenital long QT syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | not provided Long QT syndrome 2 Congenital long QT syndrome Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150646072C>G; NC_000007.13:g.150646072C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000181866.1, RCV000015505.25, RCV000058125.3, RCV000254122.1, |
[PMID 164320] Species differences in the hormonal control of lipogenesis in rat and chicken hepatocytes.
[PMID 8914737] Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
[PMID 10086971] C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
[PMID 11222472] Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.
[PMID 11854117] Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
