Version 2.78

Term Description

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

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

Fully-Specified Name

Component
EPHX1 gene.c.416A>G
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

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

Example Answer List: LL2556-0

Source: Regenstrief LOINC
Answer Code Score Answer 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
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen EPHX1 c.416A> G:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen EPHX1 c.416A> G:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) EPHX1 gène c.416A>G:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (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-NL Dutch (Netherlands) EPHX1-gen c.416A>G:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (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