ClinGen Dosage Sensitivity Curation Page

CEP164

  • Curation Status: Complete

Location Information

  • 11q23.3
  • GRCh37/hg19 chr11: 117,192,494-117,283,982
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 117,316,346-117,413,266
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: NEPHRONOPHTHISIS 15; NPHP15
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity