LP417575-0
EPHX1 gene.c.416A>G
Active
Description
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
Basic Part Properties
- Part Display Name
- EPHX1 gene.c.416A>G
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-30
- Construct for LOINC Short Name
- EPHX1 c.416A>G
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP417575-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | EPHX1-gen c.416A>G |
| zh-CN | Chinese (China) | EPHX1 基因.c.416A>G |
| it-IT | Italian (Italy) | EPHX1,gene.c.416A>G |
| es-ES | Spanish (Spain) | Gen EPHX1 c.416A> G |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright