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Gene entry

MMAB

metabolism of cobalamin associated B

Chromosome
12
Cytoband
12q24.11
Variants (rsID)
11

MMAB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.11). Its official name is “metabolism of cobalamin associated B”. The reference table lists 11 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs9593Benignsingle nucleotide variantMethylmalonic aciduria, cblB type|Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
  • rs117269384Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria, cblB type
  • rs35648932Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria, cblB type
  • rs28941784Pathogenicsingle nucleotide variantMethylmalonic aciduria, cblB type|Methylmalonic acidemia
  • rs369296618Pathogenicsingle nucleotide variantMethylmalonic aciduria, cblB type|Methylmalonic acidemia
  • rs376128990Pathogenicsingle nucleotide variantMethylmalonic aciduria, cblB type
  • rs765547005Uncertain significancesingle nucleotide variantMethylmalonic aciduria, cblB type

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.