rs61754424
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.9 | Probably Benign Rett Syndrome genotype: Feedback Welcome |
| Make rs61754424(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 154032538 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61754424 |
| dbSNP (classic) | rs61754424 |
| ClinGen | rs61754424 |
| ebi | rs61754424 |
| HLI | rs61754424 |
| Exac | rs61754424 |
| Gnomad | rs61754424 |
| Varsome | rs61754424 |
| LitVar | rs61754424 |
| Map | rs61754424 |
| PheGenI | rs61754424 |
| Biobank | rs61754424 |
| 1000 genomes | rs61754424 |
| hgdp | rs61754424 |
| ensembl | rs61754424 |
| geneview | rs61754424 |
| scholar | rs61754424 |
| rs61754424 | |
| pharmgkb | rs61754424 |
| gwascentral | rs61754424 |
| openSNP | rs61754424 |
| 23andMe | rs61754424 |
| SNPshot | rs61754424 |
| SNPdbe | rs61754424 |
| MSV3d | rs61754424 |
| GWAS Ctlg | rs61754424 |
| Max Magnitude | 1.9 |
rs61754424, also known as c.82C>T, p.Gln28Ter and Q16X, is a mutation in the MECP2 gene on the X chromosome.
The rare rs61754424(T) variant is listed in ClinVar as a pathogenic mutation leading to Rett syndrome, apparently based on it's listing in the RettBase as a nonsense mutation that is disease associated.
However, we have been unable to find verification for this, and multiple carriers who have run Promethease reports report no issues with Rett syndrome, so the minor allele appears to actually be benign. If you know of someone who is rs61754424(C;T) , please feel free to contact us if you can say if the person is healthy, or, has symptoms of Rett syndrome.
| ClinVar | |
|---|---|
| Risk | rs61754424(T;T) |
| Alt | rs61754424(T;T) |
| Reference | Rs61754424(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153297989G>A |
| CLNSRC | |
| CLNACC | RCV000133124.2, |
