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Term Description

The patient's genotype for the c.416A>G (rs2234922) variant in the EPHX1 (microsomal epoxide hydrolase) gene.

Part Description

LP417575-0   EPHX1 gene.c.416A>G
Microsomal epoxide hydrolase 1 (EPHX1) is a microsomal enzyme that acts as a detoxifying enzyme, converting epoxides to trans-dihydrodiols. EPHX1 variants (including rs1051740 and rs2234922) have been associated with craniofacial defects in children of women taking phenytoin during pregnancy, neurodegeneration, drug dependence, carbamazepine metabolism, alcohol dependence, and possibly certain cancers. PMID: 26216302 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
EPHX1 gene.c.416A>G:Geno:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
EPHX1 gene.c.416A>G [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Short Name
EPHX1 c.416A>G Geno Bld/T
Display Name
EPHX1 gene.c.416A>G genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
EPHX1 gene.c.416A>G genotype, Blood or tissue specimen

Part Model Get Info

  • Component
    EPHX1 gene.c.416A>G
    LP417575-0
    • Analyte
      EPHX1 gene.c.416A>G
      LP417575-0
      • Component Numerator
        EPHX1 gene.c.416A>G
        LP417575-0
        • Component Numerator Core
          EPHX1 gene.c.416A>G
          LP417575-0
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Geno
    LP345004-8
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2556-0

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
AA (Wildtype)LA20172-5
A/G (heterozygous)LA20173-3
G/G (homozygous)LA20174-1

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen EPHX1.c.416A>G:Genotyp:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο EPHX1 .c.416A>G:Geno:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: C G Geno MOLPATH MOLPATH.PHARMG Nom Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο EPHX1 .c.416A>G Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen EPHX1 c.416A> G:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Gen EPHX1 c.416A> G:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)EPHX1 gène c.416A>G:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)EPHX1,gene.c.416A>G:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)EPHX1-gen c.416A>G:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)EPHX1 gen.c.416A>G:genotyp:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen EPHX1 c.416A>G wynik kategorialny
zh-CNChinese (China)EPHX1 基因.c.416A>G:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 G 型 全血或组织;血液/组织;血液或组织 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94412-4