rs281865360
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 3 | X-linked retinoschisis mutation carrier |
| (G;G) | 5 | X-linked retinoschisis |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 18642058 |
| Gene | CDKL5, RS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865360 |
| dbSNP (classic) | rs281865360 |
| ClinGen | rs281865360 |
| ebi | rs281865360 |
| HLI | rs281865360 |
| Exac | rs281865360 |
| Gnomad | rs281865360 |
| Varsome | rs281865360 |
| LitVar | rs281865360 |
| Map | rs281865360 |
| PheGenI | rs281865360 |
| Biobank | rs281865360 |
| 1000 genomes | rs281865360 |
| hgdp | rs281865360 |
| ensembl | rs281865360 |
| geneview | rs281865360 |
| scholar | rs281865360 |
| rs281865360 | |
| pharmgkb | rs281865360 |
| gwascentral | rs281865360 |
| openSNP | rs281865360 |
| 23andMe | rs281865360 |
| SNPshot | rs281865360 |
| SNPdbe | rs281865360 |
| MSV3d | rs281865360 |
| GWAS Ctlg | rs281865360 |
| Max Magnitude | 5 |
rs281865360, also known as c.621C>G, p.His207Gln and H207Q, represents a rare mutation in the RS1 gene, located on the X chromosome.
The H207Q mutation is considered to cause X-linked retinoschisis (XLRS), a monogenic form of macular degeneration, inherited as an X-linked dominant condition. However, in contrast to other X-linked inherited retinal dystrophies, such as retinitis pigmentosa or choroideremia, female carriers (i.e. those with only one mutant allele) may have normal retinal function.[PMID 22245536
]
| ClinVar | |
|---|---|
| Risk | Rs281865360(G;G) |
| Alt | Rs281865360(G;G) |
| Reference | Rs281865360(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | CDKL5 RS1 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.18660178G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000085346.1, |
