COL1A1/PDGFB Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22) which fuses the COL1A1 gene with exon 2 of the PDGFRB gene. This fusion is associated with Dermatofibrosarcoma protuberans.

**Synonyms:** - COL1A1-PDGFB Fusion Gene - COL1A1::PDGFB Fusion Gene - PDGFB/COL1A1 Fusion Gene