rs72558449(C;T)
From SNPedia
Carrier of an ornithine carbamoyltransferase mutation |
Is a | genotype |
of | rs72558449 |
Gene | OTC |
Chromosome | X |
Position | 38,408,961 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8.2 | Ornithine Transcarbamylase Deficiency |
(C;T) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
(T;T) | 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.