ClinGen Dosage Sensitivity Curation Page

CPN1

  • Curation Status: Complete

Location Information

  • 10q24.2
  • GRCh37/hg19 chr10: 101,802,065-101,841,642
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr10: 100,042,308-100,081,885
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: CARBOXYPEPTIDASE N DEFICIENCY
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity