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Term Description

Used to report the number of hexanucleotide GGGGCC repeats in a non-coding sequence of the C9orf72 gene. This mutation is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia). PMID: 21944778 The normal number of the hexanucleotide repeats is typically 30, PMID: 22808918 but in patients with the mutation, the repeat can occur in the order of hundreds. PMID: 22399793

Part Description

LP193280-7   C9orf72 gene.GGGGCC repeats
The C9orf72 gene (chromosome 9 open reading frame 72) [HGNC Gene ID: 28337] is located on chromosome 9p21.2. The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia). PMID: 21944778 PMID: 21944779 Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients PMID: 23393093. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015][NCBI Gene ID: 203228] Source: National Center for Biotechnology Information (NCBI) Books

LOINC Names Get Info

Fully-Specified Name
C9orf72 gene.GGGGCC repeats:EntNum:Pt:Bld/Tiss:Qn:Molgen
Long Common Name
C9orf72 gene GGGGCC repeats [Entitic number] in Blood or Tissue by Molecular genetics method
Short Name
C9orf72 GGGGCC Rpt EntNum Bld/T
Display Name
C9orf72 gene GGGGCC repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
C9orf72 gene GGGGCC Repeats, Blood or tissue specimen

Part Model Get Info

  • Component
    C9orf72 gene.GGGGCC repeats
    LP193280-7
    • Analyte
      C9orf72 gene.GGGGCC repeats
      LP193280-7
      • Component Numerator
        C9orf72 gene.GGGGCC repeats
        LP193280-7
        • Component Numerator Core
          C9orf72 gene.GGGGCC repeats
          LP193280-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    EntNum
    LP6806-6
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.52 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen C9orf72 repetitivní sekvence GGGGCC:Entitní počet:Časový bod:Krev/tkáň:Kvantitativní:Molekulární genetika
el-GRGreek (Greece)Γονίδιο C9orf72.επαναλήψεις GGGGCC:EntNum:Pt:Αίμα/Ιστός:Qn:Μοριακή γενετική
Synonyms: EntNum MOLPATH MOLPATH.NUCREPEAT Pt Qn Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο C9orf72 GGGGCC Γονίδιο C9orf72.επαναλήψεις GGGGCC Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen C9orf72 repeticiones GGGGCC:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Gen C9orf72.GGGGCC repeticiones:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-FRFrench (France)C9orf72 gène répétition GGGGCC:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-ITItalian (Italy)C9orf72, gene.ripetizioni GGGGCC:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni GGGGCC di gene C9orf72 Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)c9off72-gen.GGGGCC repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: c9off72 gen.GGGGCC repeats c9orf72 gen GGGGCC molgen
pl-PLPolish (Poland)C9orf72 gen.GGGGCC powtórzenia:liczba zawarta w:punkt w czasie:krew lub tkanka:ilościowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen C9orf72 GGGGCC Powtórzenia GGGGCC w genie C9orf72
tr-TRTurkish (Turkey)C9orf72 geni.GGGGCC tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CNChinese (China)C9orf72 基因.GGGGCC 重复序列:实体数量:时间点:全血/组织:定量型: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;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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体 9 可读框（开放读框、ORF） 72;Chromosome 9 Open Reading Frame 72 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

Example Units

UnitSource
{GGGGCC_repeats}Example UCUM Units

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

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77635-1