ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 12q24.11
  • GRCh37/hg19 chr12: 109,991,520-110,011,358
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr12: 109,553,715-109,573,580
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000012.11) (NC_000012.12)

Haploinsufficiency phenotype comments:

Variants in MMAB have been reported in association with Methylmalonic aciduria, cblB complementation type, an autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity