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Term Description

Targeted mutation analysis for the variant 470C>T (I157T, [NCBI dbSNP ID: rs17879961]) in exon 3 and the 1-base pair deletion (1100delC) in exon 10 of the CHEK2 gene is performed for the diagnosis of various cancers, including breast, ovarian, colorectal and prostate cancer.

LOINC Names Get Info

Fully-Specified Name
CHEK2 gene.c.470C>T & 1100delC:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
CHEK2 gene c.470C>T and 1100delC [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
CHEK2 c.470C>T+1100delC Bld/T
Display Name
CHEK2 gene c.470C>T and 1100delC Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CHEK2 gene c.470C>T and 1100delC, Blood or tissue specimen

Part Model Get Info

  • Component
    CHEK2 gene.c.470C>T & 1100delC
    LP157427-8
    • Analyte
      CHEK2 gene.c.470C>T & 1100delC
      LP157427-8
      • Component Numerator
        CHEK2 gene.c.470C>T & 1100delC
        LP157427-8
        • Component Numerator Core
          CHEK2 gene.c.470C>T & 1100delC
          LP157427-8
        • Component Numerator Core Suffix
          NULL
           
      • 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
    Molgen
    LP6404-0

Example Answer List: LL2336-7

Source: Estonian Society of Laboratory Medicine
AnswerCodeScoreAnswer ID
470C>T mutation presentLA19441-7
1100delC mutation presentLA19442-5

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CHEK2 c.470C>T a 1100delC:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)γονίδιο CHEK2.c.470C>T & 1100delC:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: C MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CHEK2 γονίδιο CHEK2.c.470C>T & 1100delC Ιστός Μοριακή γενετική
es-ESSpanish (Spain)gen CHEK2 c.470C>T & 1100delC:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)CHEK2 gene.c.470C> T y 1100delC:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)CHEK2 gène mutations c.470C>T et 1100delC:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)CHEK2, gene.c.470C>T & 1100delC:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CHEK2 c.470C>T and 1100delC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CHEK2-gen.c.470C>T & 1100delC:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)CHEK2 gen.c.470C>T & 1100delC:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CHEK2 Gen CHEK2 c.470C>T (p.Ile157Thr) i 1100delC (p.Thr367fs) wynik kategorialny
pt-BRPortuguese (Brazil)CHEK2 gene.c.470C>T & 1100delC:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)CHEK2 ген.c.470C>T & 1100delC:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CHEK2 gen.c.470C>T & 1100delC:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)CHEK2 基因.c.470C>T 与 1100delC: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: C 型;丙;丙型 CHEK2 基因.c.470C>T & 1100delC 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 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 检查点激酶2基因;检验点激酶2基因;检控点激酶2基因;CHEK2;CDS1;CHK2;HuCds1;LFS2;PP1425;RAD53;hCds1;checkpoint kinase 2 gene 血;血液 遗传基因;遗传因子;吉恩;生物基因

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