DPYD Exon 14 Skipping Mutation

Preferred Label : DPYD Exon 14 Skipping Mutation;

NCIt synonyms : DHPDHASE Exon 14 Skipping Mutation; Loss of DPYD Exon 14; DHP Exon 14 Skipping Mutation; Dihydropyrimidine Dehydrogenase Exon 14 Skipping Mutation; DPD Exon 14 Skipping Mutation; DPYD Exon 14 Deletion;

NCIt 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.;

NCI Metathesaurus CUI : CL1905455;

Details

Origin ID

C191939;

UMLS CUI

C5784780;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DPYD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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