72697-6
CYP3A5 gene c.6986A>G(*3) [Presence] in Blood or Tissue by Molecular genetics method
Active
Part Description
LP157497-1 CYP3A5 gene.c.6986A>G(*3)
Many drugs are metabolized by members of the cytochrome P450 CYP3A subfamily, which present considerable variation in gene expression. CYP3A4, CYP3A5, CYP3A7 and CYP3A43 genes are included in the 231-kb CYP3A locus. Several single nucleaotide polymorphisms (SNPs) with the CYP3A5 are associated with absence of CYP3A5 expression in the liver. The CYP3A5*1 allele (A6986) appears to be the main allele associated with CYP3A5 expression and activity. Individuals with a CYP3A5*1 allele may show more rapid than average metabolism of CYP3A substrates. Carriers of the mutation CYP3A5*3 (A6986G) appear not to express the enzyme due to the creation of a cryptic splice site. Since CYP3A5 expression in the liver is likely to be a useful predictor of metabolism of a variety of drugs, PCR-based assays are performed to identify a patient's genotype for the CYP3A5*1 and CYP3A5*3 alleles.
Source: Regenstrief LOINC, PMID: 12814460
Fully-Specified Name
- Component
- CYP3A5 gene.c.6986A>G(*3)
- Property
- PrThr
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- CYP3A5*3 Bld/T Ql
- Display Name
- CYP3A5 gene c.6986A>G(*3) Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP3A5 gene c.6986A>G(*3), Blood or tissue specimen
Example Answer List: LL2014-0
Source: Estonian Society of Laboratory MedicineAnswer | Code | Score | Answer ID |
---|---|---|---|
Wild type | LA9658-1 | ||
Heterozygous | LA6706-1 | ||
Homozygous | LA6705-3 |
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.42
- Last Updated
- Version 2.67
- Change Reason
- Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | gen CYP3A5.c.6986A>G(*3): |
es-MX | Spanish (Mexico) | Gen CYP3A5 c.6986A> G (* 3): |
fr-FR | French (France) | CYP3A5 gène mutation c.6986A>G(*3): |
it-IT | Italian (Italy) | CYP3A5 gene.c.6986A>G(*3): Synonyms: Farmacogenomica Gene CYP3A5 Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CYP3A5-gen.c.6986A>G(*3): Synonyms: molgen |
pt-BR | Portuguese (Brazil) | CYP3A5 gene.c.6986A>G(*3): |
ru-RU | Russian (Russian Federation) | CYP3A5 ген.c.6986A>G(*3): Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | CYP3A5 geni.c.6986A>G(*3): Synonyms: Mevcut |
zh-CN | Chinese (China) | CYP3A5 基因.c.6986A>G(*3): Synonyms: Ⅲ C 型; |
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=72697-6
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright