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Gene entry

MMACHC

metabolism of cobalamin associated C

Chromosome
1
Cytoband
1p34.1
Variants (rsID)
16

MMACHC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.1). Its official name is “metabolism of cobalamin associated C”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs6662272Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Cobalamin C disease
  • rs882803Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
  • rs199889403Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Cobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs201312386Conflicting interpretationssingle nucleotide variantCobalamin C disease|Disorders of Intracellular Cobalamin Metabolism|See cases
  • rs34258482Conflicting interpretationssingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Cobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs121918240Pathogenicsingle nucleotide variantCobalamin C disease
  • rs121918241Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|cblC type of combined methylmalonic aciduria and homocystinuria|Methylmalonic acidemia with homocystinuria cblC|Abnormality of metabolism/homeostasis
  • rs121918242Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs140522266Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs370596113Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs398124295Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs587776889Pathogenicsingle nucleotide variantCobalamin C disease|Methylmalonic acidemia with homocystinuria cblC
  • rs187869948Uncertain significancesingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism
  • rs201617713Uncertain significancesingle nucleotide variantCobalamin C disease|Disorders of Intracellular Cobalamin Metabolism|Methylmalonic acidemia with homocystinuria cblC
  • rs201898615Uncertain significancesingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.