Gene entry
MMAA
metabolism of cobalamin associated A
- Chromosome
- 4
- Cytoband
- 4q31.21
- Variants (rsID)
- 14
MMAA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q31.21). Its official name is “metabolism of cobalamin associated A”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs116773849Benignsingle nucleotide variantMethylmalonic aciduria, cblA type|Methylmalonic acidemia
- rs17014946Benignsingle nucleotide variant
- rs374347679Conflicting interpretationssingle nucleotide variantMethylmalonic aciduria, cblA type|Methylmalonic acidemia
- rs13129907Likely benignsingle nucleotide variantMethylmalonic aciduria, cblA type
- rs104893851Pathogenicsingle nucleotide variantMethylmalonic aciduria, cblA type|Methylmalonic acidemia
- rs199809221Uncertain significancesingle nucleotide variant
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.