ClinGen Dosage Sensitivity Curation Page

CSPP1

  • Curation Status: Complete

Location Information

  • 8q13.1-q13.2
  • GRCh37/hg19 chr8: 67,976,603-68,108,849
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr8: 67,062,417-67,196,614
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: JOUBERT SYNDROME 21; JBTS21
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity