rs121918243(A;A)
From SNPedia
| methylmalonic aciduria, cblC type |
| Is a | genotype |
| of | rs121918243 |
| Gene | MMACHC |
| Chromosome | 1 |
| Position | 45,508,848 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | methylmalonic aciduria, cblC type |
| (A;G) | 2 | carrier of a methylmalonic aciduria allele |
| (G;G) | 0 | common in clinvar |
This genotype represents two defective MMACHC gene alleles, leading to an inborn error of metabolism known as methylmalonic aciduria, cblC type.
