DPYD gene.c.1236G A:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : DPYD gene.c.1236G A:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : DPYD gene.c.1236G A Molgen Ql (Bld/Tiss);

LOINC long common name : DPYD gene.c.1236G A [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : DPYD gene.c.1236G A Bld/T Ql;

LOINC description : The c.1236G A variant of DPYD gene is part of the HapB3 haplotype, which also includes other variants such as c.1129-5923C G. The c.1236G A variant is considered a tagging single nucleotide polymorphism (SNP) that can identify the HapB3 haplotype. Patients who are heterozygous or homozygous for HapB3 variant are deficient in the DPYD enzyme, leading to increased risk toxicity from fluoropyrimidine chemotherapy drugs.;

Details

Origin ID

105938-5;

UMLS CUI

C5938831;

Has component
- DPYD gene [LOINC component]
- DPYD gene.c.1236G>A [LOINC component]
- Gene [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Threshold [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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