rs118204044(C;T)
From SNPedia
| Carrier of a methylmalonic aciduria type cblD mutation |
| Is a | genotype |
| of | rs118204044 |
| Gene | MMADHC |
| Chromosome | 2 |
| Position | 149,570,089 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a methylmalonic aciduria type cblD mutation |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of a second MMADHC gene mutation
