rs587777466(C;T)
From SNPedia
| Carrier of a Pontocerebellar hypoplasia type 2E mutation |
| Is a | genotype |
| of | rs587777466 |
| Gene | VPS53 |
| Chromosome | 17 |
| Position | 562,498 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Pontocerebellar hypoplasia type 2E mutation |
| (G;G) | 0 | common in clinvar |
| (T;T) | 9 | Pontocerebellar hypoplasia type 2E |
Unaffected carrier in absence of a second mutation; see VPS53 gene and Pontocerebellar hypoplasia type 2E.
