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Part Description

LP265701-5   GNA11 gene
The GNA11 (G protein subunit alpha 11) gene [HGNC Gene ID:4379] is located on chromosome 19 at 19p13.3. The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.[provided by RefSeq, Dec 2013] [NCBI Gene ID:2767] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
GNA11 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
GNA11 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
GNA11 gene Mut Bld/T Mut Anl
Display Name
GNA11 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
GNA11 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    GNA11 gene mutations
    LP451881-9
    • Analyte
      GNA11 gene mutations
      LP451881-9
      • Component Numerator
        GNA11 gene mutations
        LP451881-9
      • 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 GNA11 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο GNA11 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο GNA11 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen GNA11 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)GNA11 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)GNA11, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene GNA11 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)GNA11-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)GNA11 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu GNA11 diagnostyka molekularna Gen GNA11 wynik kategorialny
zh-CNChinese (China)GNA11 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: 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100020-7