About: COL1A1/PDGFB Fusion Gene     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • COL1A1/PDGFB Fusion Gene
rdfs:subClassOf
Semantic_Type
  • Gene or Genome
Preferred_Name
  • COL1A1/PDGFB Fusion Gene
UMLS_CUI
  • C1861000
FULL_SYN
  • COL1A1-PDGFB Fusion GeneSYNCI
  • COL1A1/PDGFB Fusion GenePTNCI
  • PDGFB/COL1A1 Fusion GeneSYNCI
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.NCI
DesignNote
  • There are multiple possible breakpoints for the COL1A1 gene.
code
  • C99196
is someValuesFrom of
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