ClinGen Dosage Sensitivity Curation Page

TCOF1

  • Curation Status: Complete

Location Information

  • 5q32-q33.1
  • GRCh37/hg19 chr5: 149,737,202-149,779,871
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr5: 150,357,639-150,400,308
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000005.9) (NC_000005.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
9042910 A variety of missense and nonsense mutations described
12114482 A variety of missense and nonsense mutations described
15340364 A variety of missense and nonsense mutations described
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity