rs143793815(T;T)
From SNPedia
| Argininosuccinate lyase deficiency |
| Is a | genotype |
| of | rs143793815 |
| Gene | ASL |
| Chromosome | 7 |
| Position | 66,083,120 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Unaffected carrier of an argininosuccinate lyase mutation |
| (T;T) | 8 | Argininosuccinate lyase deficiency |
see discussion at rs143793815 about uncertainty over pathogenicity
