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Part Description

LP19689-6   CTNNB1 gene
The CTNNB1 gene (catenin (cadherin-associated protein), beta 1, 88kDa) [HGNC Gene ID:2514] is located on chromosome 3p21. The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] [NCBI Gene ID:1499] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CTNNB1 gene targeted mutation analysis:Find:Pt:Tumor:Doc:Molgen
Long Common Name
CTNNB1 gene targeted mutation analysis in Tumor by Molecular genetics method
Short Name
CTNNB1 gene full mut Anl Tumor Mol/Seq
Display Name
CTNNB1 gene targeted mutation analysis Molgen Doc (Tumor)
Consumer Name Alpha Get Info
CTNNB1 gene targeted full mutation analysis

Part Model Get Info

  • Component
    CTNNB1 gene targeted mutation analysis
    LP228194-9
    • Analyte
      CTNNB1 gene targeted mutation analysis
      LP228194-9
      • Component Numerator
        CTNNB1 gene targeted mutation analysis
        LP228194-9
        • Component Numerator Core
          CTNNB1 gene
          LP19689-6
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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
    Tumor
    LP7664-8
    • System Core
      Tumor
      LP7664-8
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CTNNB1 cílená mutační analýza:Nález:Časový bod:Tumor:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CTNNB1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Όγκος:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Γονίδιο Γονίδιο CTNNB1 Εύρεση Μοριακή γενετική Όγκος στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen CTNNB1 Analisis de mutaciones:Hallazgo:Punto temporal:Tumor:Doc:Genética molecular
fr-FRFrench (France)CTNNB1 gène mutation cible trouvée:Recherche:Ponctuel:Tumeur:Document:Biologie moléculaire
it-ITItalian (Italy)CTNNB1, gene analisi di mutazione mirata:Osservazione:Pt:Tumore:Doc:Molgen
Synonyms: Gene CTNNB1 Genetica molecolare Neoplasia Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NLDutch (Netherlands)CTNNB1-gen doelgerichte mutatie-analyse:bevinding:moment:tumor:document:moleculair genetisch onderzoek
Synonyms: CTNNB1 gen molgen targeted
pl-PLPolish (Poland)CTNNB1 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:guz:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu CTNNB1 diagnostyka molekularna Gen CTNNB1
ru-RURussian (Russian Federation)CTNNB1 ген исследование на мутацию:Находка:ТчкВрм:Опухоль:Док:МолГен
Synonyms: Документ Точка во времени;Момент
tr-TRTurkish (Turkey)CTNNB1 geni Mutasyon analizi:Bulgu:Zmlı:Tümör:Dokm:Molgen
zh-CNChinese (China)CTNB1 基因 突变分析:发现:时间点:肿瘤:文档型:分子遗传学类实验室方法
Synonyms: Beta-catenin 基因;Beta-连环素基因;Beta-链接素基因;CTNNB;β-catenin 基因;β-连环素基因;β-链接素基因;大肠癌;毛基质瘤;毛母质瘤;结直肠癌;结肠直肠癌;肝母细胞瘤;肝胚细胞瘤;钙依赖粘附素相关蛋白 Beta 基因;钙依赖粘附素相关蛋白β基因;钙化上皮瘤;钙粘素相关蛋白 Beta 基因;钙粘素相关蛋白β基因;钙粘附素相关蛋白 Beta 基因;钙粘附素相关蛋白β基因;钙粘附蛋白相关蛋白 Beta 基因;钙粘附蛋白相关蛋白β基因 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;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 基因突变分析 时刻;随机;随意;瞬间 瘤;肿块;赘生物 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=103678-9