rs28928904
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (A;T) | 5 | Romano-Ward Long QT Syndrome |
| (C;T) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 3 | possibly increased susceptibility to long QT syndrome |
| (G;T) | 5 | Romano-Ward Long QT Syndrome |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150951615 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928904 |
| dbSNP (classic) | rs28928904 |
| ClinGen | rs28928904 |
| ebi | rs28928904 |
| HLI | rs28928904 |
| Exac | rs28928904 |
| Gnomad | rs28928904 |
| Varsome | rs28928904 |
| LitVar | rs28928904 |
| Map | rs28928904 |
| PheGenI | rs28928904 |
| Biobank | rs28928904 |
| 1000 genomes | rs28928904 |
| hgdp | rs28928904 |
| ensembl | rs28928904 |
| geneview | rs28928904 |
| scholar | rs28928904 |
| rs28928904 | |
| pharmgkb | rs28928904 |
| gwascentral | rs28928904 |
| openSNP | rs28928904 |
| 23andMe | rs28928904 |
| SNPshot | rs28928904 |
| SNPdbe | rs28928904 |
| MSV3d | rs28928904 |
| GWAS Ctlg | rs28928904 |
| Max Magnitude | 5 |
rs28928904, also known as I593R or Ile593Arg, is a SNP in the KCNH2 gene on chromosome 7.
A 1996 publication reports that the rs28928904(G) allele is associated with long QT syndrome 2.[PMID 8635257]
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 | Rs28928904(A;A) rs28928904(C;C) Rs28928904(G;G) |
| Alt | Rs28928904(A;A) rs28928904(C;C) Rs28928904(G;G) |
| Reference | Rs28928904(T;T) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 2 Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Long QT syndrome 2 Congenital long QT syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150648703A>C; NC_000007.13:g.150648703A>G; NC_000007.13:g.150648703A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015504.27, RCV000057986.3, RCV000057985.3, RCV000181818.1, RCV000057984.3, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 8635257] Missense mutation in the pore region of HERG causes familial long QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
