rs72554331(A;G)
From SNPedia
| Carrier of an ornithine carbamoyltransferase mutation |
| Is a | genotype |
| of | rs72554331 |
| Gene | OTC |
| Chromosome | X |
| Position | 38,369,815 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.2 | Ornithine Transcarbamylase Deficiency |
| (A;G) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (G;G) | 0 | common in clinvar |
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.
