ClinGen Dosage Sensitivity Curation Page

COG8

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)

Haploinsufficiency phenotype comments:

Variants in COG8 have been described in congenital disorder of glycosylation type IIh, an autosomal recessive disorder.

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