| Carrier of a congenital disorder of glycosylation type I mutation |
| Is a | genotype |
| of | rs80338701 |
| Gene | PMM2 |
| Chromosome | 16 |
| Position | 8,811,088 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a congenital disorder of glycosylation type I mutation |
| (C;C) | 0 | common in clinvar |
Unaffected in absence of a second PMM2 gene mutation
