ClinGen Dosage Sensitivity Curation Page

PCCA

  • Curation Status: Complete

Location Information

  • 13q32.3
  • GRCh37/hg19 chr13: 100,741,269-101,182,691
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr13: 100,089,020-100,530,435
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000013.10) (NC_000013.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: PROPIONIC ACIDEMIA
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity