BCOR Final Exon Internal Tandem Duplication

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A genetic abnormality that arises from tandem duplications of the exon encoding the C-terminus of the BCL-6 corepressor (BCOR) protein, which results in constitutive activation of BCOR protein and its downstream signaling pathways.

**Synonyms:** - ANOP2 Final Exon Internal Tandem Duplication - BCL6 Co-Repressor Final Exon Internal Tandem Duplication - BCL6 Corepressor Final Exon Internal Tandem Duplication - BCOR Exon 15 ITD - BCOR Exon 16 ITD - BCOR Final Exon ITD - MAA2 Final Exon Internal Tandem Duplication - MCOPS2 Final Exon Internal Tandem Duplication