Version 2.78

Term Description

The CES1 gene encodes carboxylesterase 1A1 (CES1A1), which is the key enzyme involved in the first-pass metabolism of methylphenidate (Ritalin). Presence of the CES1 Gly143Glu missense variant (c.428G>A, [NCBI dbSNP ID: rs71647871]) results in decreased CES1A1 activity, which may lead to a higher than expected plasma concentration of methylphenidate and increase the risk of side effects.
Source: Regenstrief LOINC

Fully-Specified Name

Component
CES1 gene.c.428G>A
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CES1 c.428G>A Bld/T Ql
Display Name
CES1 gene c.428G>A Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CES1 gene c.428G>A, Blood or tissue specimen

Example Answer List: LL2478-7

Source: Regenstrief LOINC
Answer Code Score Answer ID
G/G (wild type) LA19932-5
G/A (heterozygous) LA19933-3
A/A (homozygous) LA19934-1

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Change Reason
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 CES1 c.428G>A:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen CES1 c.428G> A:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CES1 gène mutation c.428G>A:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) CES1 gene.c.428G>A:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CES1-gen.c.428G>A:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CES1 gen.c.428G>A molgen
tr-TR Turkish (Turkey) CES1 geni.c.428G>A:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) CES1 基因.c.428G>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 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79164-0