rs267607036(A;G)
From SNPedia
| Carrier of a Pontocerebellar hypoplasia type 2D mutation |
| Is a | genotype |
| of | rs267607036 |
| Gene | SEPSECS |
| Chromosome | 4 |
| Position | 25,144,799 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Pontocerebellar hypoplasia type 2D mutation |
| (G;G) | 9 | Pontocerebellar hypoplasia type 2D |
Unaffected carrier in absence of a second mutation; see SEPSECS gene and Pontocerebellar hypoplasia type 2D.
