rs370596113(C;T)
From SNPedia
Carrier of a methylmalonic aciduria type cblC mutation |
Is a | genotype |
of | rs370596113 |
Gene | MMACHC |
Chromosome | 1 |
Position | 45,508,847 |
mentioned | by |
Magnitude | 3 |
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 |
Unaffected in absence of a second MMACHC gene mutation