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Part Description

LP190792-4   SMAD4 gene
The SMAD4 gene (SMAD family member 4) [HGNC Gene ID:6770] is located on chromosome 18q21.1. This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009] [NCBI Gene ID:4089] Source: National Center for Biotechnology Information (NCBI) Gene,

LOINC Names Get Info

Fully-Specified Name
SMAD4 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
SMAD4 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
SMAD4 gene Mut Bld/T Mut Anl
Display Name
SMAD4 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SMAD4 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    SMAD4 gene mutations
    LP451888-4
    • Analyte
      SMAD4 gene mutations
      LP451888-4
      • Component Numerator
        SMAD4 gene mutations
        LP451888-4
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL744-4

Source: Regenstrief Institute
AnswerCodeScoreAnswer ID
DetectedLA11882-0
Not detectedLA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.83 (NAM)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SMAD4 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SMAD4 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SMAD4 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen SMAD4 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)SMAD4 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)SMAD4, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SMAD4 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SMAD4-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SMAD4 gen targeted
pl-PLPolish (Poland)SMAD4 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu SMAD4 diagnostyka molekularna Gen SMAD4 wynik kategorialny
tr-TRTurkish (Turkey)SMAD4 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)SMAD4 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: SMAD 家族成员 4;SMAD Family Member 4;Deletion Target In Pancreatic Carcinoma 4;MAD Homolog 4;MAD, Mothers Against Decapentaplegic Homolog 4 (Drosophila);Mothers Against Decapentaplegic, Drosophila, Homolog Of, 4;SMAD, Mothers Against DPP Homolog 4 (Drosophila 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100027-2