rs199472944
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Romano-Ward Long QT Syndrome |
| Make rs199472944(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150951552 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472944 |
| dbSNP (classic) | rs199472944 |
| ClinGen | rs199472944 |
| ebi | rs199472944 |
| HLI | rs199472944 |
| Exac | rs199472944 |
| Gnomad | rs199472944 |
| Varsome | rs199472944 |
| LitVar | rs199472944 |
| Map | rs199472944 |
| PheGenI | rs199472944 |
| Biobank | rs199472944 |
| 1000 genomes | rs199472944 |
| hgdp | rs199472944 |
| ensembl | rs199472944 |
| geneview | rs199472944 |
| scholar | rs199472944 |
| rs199472944 | |
| pharmgkb | rs199472944 |
| gwascentral | rs199472944 |
| openSNP | rs199472944 |
| 23andMe | rs199472944 |
| SNPshot | rs199472944 |
| SNPdbe | rs199472944 |
| MSV3d | rs199472944 |
| GWAS Ctlg | rs199472944 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs199472944(T;T) |
| Alt | rs199472944(T;T) |
| Reference | Rs199472944(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.150648640G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022643.26, RCV000058010.3, RCV000254785.2, RCV000462085.1, |
[PMID 9024139] Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
[PMID 9544837] Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
[PMID 9927399] Low penetrance in the long-QT syndrome: clinical impact.
[PMID 10560244] Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.
[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.
