rs121918248(C;T)
From SNPedia
Carrier for a methylmalonic aciduria mutation |
Is a | genotype |
of | rs121918248 |
Gene | MUT |
Chromosome | 6 |
Position | 49,459,415 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier for a methylmalonic aciduria mutation |
(T;T) | 8.8 | Methylmalonic aciduria (predicted) |
Unaffected in absence of another pathogenic MUT gene mutation. See details via ClinVar link on main SNP/rs# page.