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Gene entry

MMADHC

metabolism of cobalamin associated D

Chromosome
2
Cytoband
2q23.2
Variants (rsID)
7

MMADHC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q23.2). Its official name is “metabolism of cobalamin associated D”. The reference table lists 7 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs138607412Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylmalonic aciduria and homocystinuria type cblD
  • rs61750442Benignsingle nucleotide variantDisorders of Intracellular Cobalamin Metabolism|Methylmalonic aciduria and homocystinuria type cblD
  • rs118204046Conflicting interpretationssingle nucleotide variantHomocystinuria, cblD type, variant 1|Methylmalonic aciduria and homocystinuria type cblD|Cobalamin C disease|See cases
  • rs118204044Pathogenicsingle nucleotide variantHomocystinuria, cblD type, variant 1

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.