DPYD NM_000110.4:c.1905 1G A

Preferred Label : DPYD NM_000110.4:c.1905 1G A;

NCIt synonyms : DHPDHASE c.1905 1G A; NM_000110.4:c.1905 1G A; DHP c.1905 1G A; NC_000001.11:g.97450058C T; NG_008807.2:g.476002G A; NC_000001.10:g.97915614C T; DPYD c.1905 1G A; Dihydropyrimidine Dehydrogenase c.1905 1G A; DPD c.1905 1G A; DPYD Polymorphism rs3918290;

NCIt definition : A nucleotide substitution at position 1 of intron 14 of the DPYD gene where guanine has been mutated to adenine.;

NCIt note : DPYD c.1905 1G A leads to a splicing defect that causese skipping of exon 14. (J Inherit Metab Dis. 1996;19:645-54.doi: 10.1007/BF01799841.);

NCI Metathesaurus CUI : CL1905456;

SNP ID : rs3918290;

PubMed : 8892022;

Details

Origin ID

C191940;

UMLS CUI

C5784781;

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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