ClinGen Dosage Sensitivity Curation Page

TCTN2

  • Curation Status: Complete

Location Information

  • 12q24.31
  • GRCh37/hg19 chr12: 124,155,660-124,192,950
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr12: 123,671,108-123,708,405
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity