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Term 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.

LOINC Names Get Info

Fully-Specified Name
DPYD gene.c.1236G>A:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method
Short Name
DPYD gene.c.1236G>A Bld/T Ql
Display Name
DPYD gene.c.1236G>A Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
DPYD gene.c.1236G>A, Blood or tissue specimen

Part Model Get Info

  • Component
    DPYD gene.c.1236G>A
    LP437359-5
    • Analyte
      DPYD gene.c.1236G>A
      LP437359-5
      • Component Numerator
        DPYD gene.c.1236G>A
        LP437359-5
        • Component Numerator Core
          DPYD gene.c.1236G>A
          LP437359-5
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.78
Last Updated
Version 2.78 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen DPYD.c.1236G>A:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο DPYD.c.1236G>A:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: A C MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο DPYD Γονίδιο DPYD.c.1236G>A Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen DPYD.c.1236G>A:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FRFrench (France)DPYD gène mutation c.1236G>A:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
fr-CAFrench (Canada)DPYD gène.c.1236G>A:Présence-Seuil:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
it-ITItalian (Italy)DPYD, gene.c.1236G>A:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene DPYD Gene DPYD c.1236G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)DPYD-gen.c.1236G>A:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: DPYD gen molgen
pl-PLPolish (Poland)DPYD gen.c.1236G>A:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen DPYD Gen DPYD c.1236G>A
zh-CNChinese (China)DPYD 基因.c.1236G>A:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: A 型 C 型;丙;丙型 DHP;DHPDHase;DPD;二氢嘧啶脱氢酶基因;二氢尿嘧啶脱氢酶基因;二氢胸腺嘧啶脱氢酶基因 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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