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ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)

Haploinsufficiency phenotype comments:

CDK4 is a familial melanoma gene. Gain of function mutations, particularly at codon 24 of exon 2, function as dominant oncogene (see Puntervoll et al., (2013)(PMID 23384855)).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No evidence for triplosensitivity