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Term Description

The JAK2 gene is located on chromosome 9 and the V617F point mutation causes valine to phenylalanine substitution at position 617. JAK2 is a cytoplasmic protein, with the V617F mutation resulting in constitutive JAK2 activity and enhanced JAK2-signal transducers and activators of transcription signaling. The V617F point mutation causes the activation of these pathways, leading to uncontrolled cell proliferation, resulting in myeloproliferative disorders. This mutation is seen in most patients with polycythemia vera and about half of the patients with essential thromobcytopenia and idiopathic myelofibrosis. Mutation has also been found in some patients with Philadelphia chromosome negative Chronic Myelogenous Leukemia(CML), Chronic Myelomonocytic Leukemia(CMML), chronic neutrophilic leukemia, megakaryocytic leukemia, and some patients with myelodysplastic syndrome(MDS). Information from the American Society of Hematology (www.hematology.org; accessed 2007 03 02.) and ARUP Laboratories (2007 10 24).

LOINC Names Get Info

Fully-Specified Name
JAK2 gene.p.Val617Phe mutant/normal:RelRto:Pt:Bld/Tiss:Qn:Molgen
Long Common Name
JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method
Short Name
JAK2 p.V617F mut/Nor Bld/T
Display Name
JAK2 gene.p.Val617Phe mutant/Normal Molgen (Bld/Tiss) [Relative ratio]
Consumer Name Alpha Get Info
JAK2 gene p.Val617Phe Mutant/Normal, Blood or tissue specimen

Part Model Get Info

  • Component
    JAK2 gene.p.Val617Phe mutant/normal
    LP286300-1
    • Analyte
      JAK2 gene.p.Val617Phe mutant/normal
      LP286300-1
      • Component Numerator
        JAK2 gene.p.Val617Phe mutant
        LP71238-7
        • Component Numerator Core
          JAK2 gene.p.Val617Phe mutant
          LP71238-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        Normal
        LP32108-0
        • Component Denominator Core
          Normal
          LP32108-0
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    RelRto
    LP6854-6
  • 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.MUT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.73 (MIN)
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.
Order vs. Observation
Both
Common Test Rank Get Info
5490

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen JAK2.p.Val617Phe mutantní/normální:Relativní poměr:Časový bod:Krev/tkáň:Kvantitativní:Molekulární genetika
de-ATGerman (Austria)Synonyms: JAK2 Genmutation V617F qn.
el-GRGreek (Greece)Μεταλλαγμένο γονίδιο JAK2.p.Val617Phe/Φυσιολογικό:RelRto:Pt:Αίμα/Ιστός:Qn:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT P Pt Qn RelRto Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο JAK2 Γονίδιο JAK2 p.Val617Phe Ιστός Μεταλλαγμένο γονίδιο JAK2.p.Val617Phe Μοριακή γενετική Φυσιολογικό
es-ESSpanish (Spain)Gen JAK2 p.V617F alelo mutado/Normal:Ratio relativo:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Gen JAK2 p. Val617 Phe mutante / normal:Razón relativa:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-FRFrench (France)JAK2 gène.p.Val617Phe mutant/normal:Ratio relatif:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-ITItalian (Italy)JAK2, gene.p.Val617Phe mutante/Normale:RelRto:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene JAK2 Gene JAK2 p.Val617Phe Gene JAK2 p.Val617Phe mutante Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Rapporto Relativo Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)JAK2-gen.p.V617F mutant/normaal:relatieve verhouding:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: JAK2 gen JAK2 gen.p.V617F JAK2 gen.p.V617F mutant molgen
pl-PLPolish (Poland)JAK2 gen.p.Val617Phe zmutowany/prawidłowy:współczynnik względny:punkt w czasie:krew lub tkanka:ilościowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen JAK2 Gen JAK2 p.Val617Phe Zmutowany gen JAK2 p.Val617Phe
pt-BRPortuguese (Brazil)JAK2 gene.p.V617F mutante/normal:RelRto:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; JAK2 p.V617F mut; JAK2 p.V617F mut; JAK2 p.V617F; PV; Janus kinase 2 gene; Erythrocytosis; Polycythemia vera; Nor; Relative ratio; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; mut/norm; P prime; Control; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)JAK2 ген.p.V617F мутант/Нормальный:ОтнПок:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Кровь Кровь или Ткань Относительный показатель;Относительное отношение Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)JAK2 geni.p.V617F mutant/Normal:GörOr:Zmlı:Kan/Dk:Kant:Molgen
zh-CNChinese (China)JAK2 基因.p.V617F 突变体/正常:相对比率:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: JAK2 p.V617F JAK2 基因.p.V617F 突变 Janus 激酶 2 基因;PV;两面神激酶 2 基因;坚纽斯激酶 2 基因;奥斯勒氏病;杰纳斯激酶 2 基因;真性多血症;真性红细胞增多症;真性红血球增多症;红细胞增多;红细胞增多症;红血球增多症;脾大性红细胞增多;脾大性红细胞增多（Polycythemia vera，PV，奥斯勒氏病）;脾大性红细胞增多症 P 型 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 对照 对照标准 对照物 对照的 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 来自于不同体系的两种分析物之比;相对比;相对比值 正常的 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

UnitSource
%Example UCUM Units
%REGENSTRIEF

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