rs28928905
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | possible association with long QT syndrome |
| (A;G) | 3 | possible association with long QT syndrome |
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150952514 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928905 |
| dbSNP (classic) | rs28928905 |
| ClinGen | rs28928905 |
| ebi | rs28928905 |
| HLI | rs28928905 |
| Exac | rs28928905 |
| Gnomad | rs28928905 |
| Varsome | rs28928905 |
| LitVar | rs28928905 |
| Map | rs28928905 |
| PheGenI | rs28928905 |
| Biobank | rs28928905 |
| 1000 genomes | rs28928905 |
| hgdp | rs28928905 |
| ensembl | rs28928905 |
| geneview | rs28928905 |
| scholar | rs28928905 |
| rs28928905 | |
| pharmgkb | rs28928905 |
| gwascentral | rs28928905 |
| openSNP | rs28928905 |
| 23andMe | rs28928905 |
| SNPshot | rs28928905 |
| SNPdbe | rs28928905 |
| MSV3d | rs28928905 |
| GWAS Ctlg | rs28928905 |
| Max Magnitude | 3 |
rs28928905, also known as Ala490Thr or A490T, is a SNP in the KCNH2 gene on chromosome 7.
The rs28928905(A) allele has been reported to be associated with bradycardia-induced 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 | Rs28928905(A;A) Rs28928905(C;C) |
| Alt | Rs28928905(A;A) Rs28928905(C;C) |
| Reference | Rs28928905(G;G) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Long QT syndrome not provided |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome, bradycardia-induced not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150649602C>G; NC_000007.13:g.150649602C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000057911.3, RCV000015511.26, RCV000057910.3, RCV000182022.1, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 11170080] Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
[PMID 18441445] Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
[PMID 18808722] Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 20975234] Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.
[PMID 17560885] A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.
