rs9333649
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (C;C) | 4 | associated with long QT syndrome |
| (C;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150951679 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9333649 |
| dbSNP (classic) | rs9333649 |
| ClinGen | rs9333649 |
| ebi | rs9333649 |
| HLI | rs9333649 |
| Exac | rs9333649 |
| Gnomad | rs9333649 |
| Varsome | rs9333649 |
| LitVar | rs9333649 |
| Map | rs9333649 |
| PheGenI | rs9333649 |
| Biobank | rs9333649 |
| 1000 genomes | rs9333649 |
| hgdp | rs9333649 |
| ensembl | rs9333649 |
| geneview | rs9333649 |
| scholar | rs9333649 |
| rs9333649 | |
| pharmgkb | rs9333649 |
| gwascentral | rs9333649 |
| openSNP | rs9333649 |
| 23andMe | rs9333649 |
| SNPshot | rs9333649 |
| SNPdbe | rs9333649 |
| MSV3d | rs9333649 |
| GWAS Ctlg | rs9333649 |
| Max Magnitude | 5 |
rs9333649, also known as G572R or Gly572Arg, is a SNP in the KCNH2 gene on chromosome 7.
Carrying one copy of the rs9333649(C) allele has been reported at least twice to be associated with long QT syndrome; see OMIM for discussion.
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | rs9333649(A;A) Rs9333649(C;C) rs9333649(T;T) |
| Alt | rs9333649(A;A) Rs9333649(C;C) rs9333649(T;T) |
| Reference | Rs9333649(G;G) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Long QT syndrome 2 not provided |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome 2 not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150648767C>A; NC_000007.13:g.150648767C>G; NC_000007.13:g.150648767C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000057961.3, RCV000015510.24, RCV000057960.3, RCV000057959.3, RCV000181811.3, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 9693036] Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 20931] Calorimetric and equilibrium binding studies of the interaction of substrates with glutamine synthetase of Escherichia coli.
[PMID 10220146] High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
[PMID 10735633] Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[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.
[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
[PMID 18752] Effect of apomorphine on the antinociceptive activity of morphine.
[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
[PMID 16831322] [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.
