rs121912504
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912504(C;T) |
| Make rs121912504(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150951711 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912504 |
| dbSNP (classic) | rs121912504 |
| ClinGen | rs121912504 |
| ebi | rs121912504 |
| HLI | rs121912504 |
| Exac | rs121912504 |
| Gnomad | rs121912504 |
| Varsome | rs121912504 |
| LitVar | rs121912504 |
| Map | rs121912504 |
| PheGenI | rs121912504 |
| Biobank | rs121912504 |
| 1000 genomes | rs121912504 |
| hgdp | rs121912504 |
| ensembl | rs121912504 |
| geneview | rs121912504 |
| scholar | rs121912504 |
| rs121912504 | |
| pharmgkb | rs121912504 |
| gwascentral | rs121912504 |
| openSNP | rs121912504 |
| 23andMe | rs121912504 |
| SNPshot | rs121912504 |
| SNPdbe | rs121912504 |
| MSV3d | rs121912504 |
| GWAS Ctlg | rs121912504 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912504(T;T) |
| Alt | rs121912504(T;T) |
| Reference | Rs121912504(C;C) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 2 Congenital long QT syndrome not provided Long QT syndrome |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Long QT syndrome 2 Congenital long QT syndrome not provided Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150648799G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015501.22, RCV000057941.3, RCV000181806.3, RCV000229360.2, |
[PMID 1166863] Operative management of early invasive epidermoid carcinoma of the vulva.
[PMID 7889573] A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
[PMID 9927399] Low penetrance in the long-QT syndrome: clinical impact.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11113008] Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome.
[PMID 11468227] Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
