rs72558473(C;T)
From SNPedia
| Carrier of an ornithine carbamoyltransferase mutation |
| Is a | genotype |
| of | rs72558473 |
| Gene | OTC |
| Chromosome | X |
| Position | 38,411,952 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (T;T) | 8.2 | Ornithine Transcarbamylase Deficiency |
Usually unaffected in absence of a second OTC gene mutation; X-linked so primary risk is to sons. Note though that ~15% of carrier females become symptomatic during their lifetime.
