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Part Description

LP437608-5   UBA1 gene mutation
UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins to be broken down within cells. Source: Medline Plus,

LOINC Names Get Info

Fully-Specified Name
UBA1 gene mutation:Find:Pt:XXX:Doc:Molgen
Long Common Name
UBA1 gene mutation in Specimen by Molecular genetics method
Short Name
UBA1 mut Spec
Display Name
UBA1 gene mutation Molgen Doc (Specimen)
Consumer Name Alpha Get Info
UBA1 gene mutation, Specimen

Part Model Get Info

  • Component
    UBA1 gene mutation
    LP437608-5
    • Analyte
      UBA1 gene mutation
      LP437608-5
      • Component Numerator
        UBA1 gene mutation
        LP437608-5
        • Component Numerator Core
          UBA1 gene mutation
          LP437608-5
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    XXX
    LP7735-6
    • System Core
      XXX
      LP7735-6
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Order

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen UBA1 mutace:Nález:Časový bod:XXX:Dokument:Molekulární genetika
el-GRGreek (Greece)Μετάλλαξη του γονιδίου UBA1:Εύρεση:Pt:XXX:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt XXX Γονίδιο Εύρεση Μετάλλαξη του γονιδίου UBA1 Μοριακή γενετική
es-ESSpanish (Spain)Mutación del gen UBA1:Hallazgo:Punto temporal:XXX:Doc:Genética molecular
fr-FRFrench (France)UBA1 gène mutation:Recherche:Ponctuel:Milieux divers:Document:Biologie moléculaire
it-ITItalian (Italy)UBA1, mutazione del gene:Osservazione:Pt:XXX:Doc:Molgen
Synonyms: Genetica molecolare Mutazione del gene UBA1 Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NLDutch (Netherlands)UBA1-genmutatie:bevinding:moment:XXX:document:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)UBA1 mutacja genu:stwierdzenie:punkt w czasie:XXX:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Mutacja genu UBA1
zh-CNChinese (China)UBA1 基因突变:发现:时间点:XXX:文档型:分子遗传学类实验室方法
Synonyms: 不明的;其他;将在相应消息内其他部分之中加以详细说明;未作详细说明的;未作说明的;未做说明的标本;未加规定的;未加说明的标本;杂项 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 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=104268-8