DPYD Exon 14 Skipping Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the DPYD gene.

**Synonyms:** - DHP Exon 14 Skipping Mutation - DHPDHASE Exon 14 Skipping Mutation - DPD Exon 14 Skipping Mutation - DPYD Exon 14 Deletion - Dihydropyrimidine Dehydrogenase Exon 14 Skipping Mutation - Loss of DPYD Exon 14