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C213495Level 4

EWSR1/SMARCA5 Fusion Gene

**Semantic type:** Gene or Genome

**Definition:** A fusion gene that results from a chromosomal translocation t(4;22)(q31;q12) that fuses the first 7 exons of the EWSR1 gene upstream of exon 8 of the SMARCA5 gene. This rearrangement is associated with Ewing sarcoma/primitive neuroectodermal tumors (PNETs).

**Synonyms:** - EWS RNA Binding Protein 1-SNF2 Related Chromatin Remodeling ATPase 5 Fusion Gene - EWS RNA Binding Protein 1/SNF2 Related Chromatin Remodeling ATPase 5 Fusion Gene - EWSR1-SMARCA5 Fusion Gene - EWSR1::SMARCA5 Fusion Gene

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