rs796052000(-;AACC)
From SNPedia
Carrier of a methylmalonic aciduria type cblC mutation |
Is a | genotype |
of | rs796052000 |
Gene | MMACHC |
Chromosome | 1 |
Position | 45,508,263 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;AACC) | 3 | Carrier of a methylmalonic aciduria type cblC mutation |
(AACC;AACC) | 0 | common in clinvar |
(CCAA;CCAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Unaffected in absence of a second MMACHC gene mutation