ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

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