RS121918241 MMACHC
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What This Variant Does
"[OMIM:?]
Associated Conditions
Cobalamin C disease
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
cblC type of combined methylmalonic aciduria and homocystinuria
Abnormality of metabolism/homeostasis
Disorders of Intracellular Cobalamin Metabolism
Methylmalonic aciduria and homocystinuria type cblD
Cobalamin C disease
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
cblC type of combined methylmalonic aciduria and homocystinuria
Abnormality of metabolism/homeostasis
Disorders of Intracellular Cobalamin Metabolism
Methylmalonic aciduria and homocystinuria type cblD
Other Variants in MMACHC