rs370596113(T;T)
From SNPedia
| methylmalonic aciduria, cblC type |
| Is a | genotype |
| of | rs370596113 |
| Gene | MMACHC |
| Chromosome | 1 |
| Position | 45,508,847 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a methylmalonic aciduria type cblC mutation |
| (T;T) | 8 | methylmalonic aciduria, cblC type |
This genotype represents two defective MMACHC gene alleles, leading to an inborn error of metabolism known as methylmalonic aciduria, cblC type.
