rs398124295(A;G)
From SNPedia
Carrier of a methylmalonic aciduria type cblC mutation |
Is a | genotype |
of | rs398124295 |
Gene | MMACHC |
Chromosome | 1 |
Position | 45,508,974 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | methylmalonic aciduria, cblC type |
(A;G) | 3 | Carrier of a methylmalonic aciduria type cblC mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second MMACHC gene mutation