ClinGen Dosage Sensitivity Curation Page

TTLL5

  • Curation Status: Complete

Location Information

Select assembly: (NC_000014.8) (NC_000014.9)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: CONE-ROD DYSTROPHY 19; CORD19
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity