ClinGen Dosage Sensitivity Curation Page

CP

  • Curation Status: Complete

Location Information

  • 3q24-q25.1
  • GRCh37/hg19 chr3: 148,880,197-148,939,832
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr3: 149,162,410-149,222,050
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: ACERULOPLASMINEMIA
  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated