RS121918254 MMUT
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What This Variant Does
"aka c.1867G>
Associated Conditions
METHYLMALONIC ACIDURIA
mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
MMUT-related disorder
Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
METHYLMALONIC ACIDURIA
mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
MMUT-related disorder
Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Other Variants in MMUT