ClinGen Dosage Sensitivity Curation Page

APC

  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
12136240 A variety of truncating mutations described, including partial gene deletions
19196998 A variety of truncating mutations described
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity