ClinGen Dosage Sensitivity Curation Page

OCA2

  • Curation Status: Complete

Location Information

  • 15q12-q13.1
  • GRCh37/hg19 chr15: 28,000,021-28,344,458
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr15: 27,719,008-28,099,342
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Homozygous mutations in the OCA2 gene cause oculocutaneous albinism type 2

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