UBTF Exon 13 Tandem Duplication

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A molecular abnormality characterized by tandem duplications within the UBTF gene including, but not limited to, sequences within exon 13. These rearrangements encode duplications of leucine-rich sequences of the high mobility group domain 4 of the nucleolar transcription factor 1 protein, which may promote cellular transformation and is associated with pediatric acute myeloid leukemia.

**Synonyms:** - NOR-90 Exon 13 Tandem Duplication - UBF Exon 13 Tandem Duplication - UBF1 Exon 13 Tandem Duplication - UBF2 Exon 13 Tandem Duplication - UBTF Exon 13 ITD - UBTF Exon 13 Internal Tandem Duplication - UBTF Exon 13 TD - UBTF Exon 13 Tandem Duplication Mutation - Upstream Binding Transcription Factor Exon 13 Tandem Duplication