Version 2.78

Part Descriptions

LP36477-5   JAK2 gene.p.Val617Phe
JAK2 gene encodes a protein tyrosine kinase that adds a phosphate group to many cellular proteins responsible for signal transduction in a variety of cells. The JAK2 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 thrombocytosis, thrombocythemia and idiopathic myelofibrosis. The V617F 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.). Source: Regenstrief Institute

LP36477-5   JAK2 gene.p.Val617Phe
JAK2 is a protein tyrosine kinase that adds a phosphate group to many cellular proteins responsible for signal transduction in a variety of cells. 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.). Source: Dutch Society for Clinical Chemistry and Laboratory Medicine

Fully-Specified Name

Component
JAK2 gene.p.Val617Phe
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
JAK2 p.V617F Bld/T Ql
Display Name
JAK2 gene p.Val617Phe Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
JAK2 gene p.Val617Phe, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.73
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.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
2570

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: JAK2 Genmut.V617F
es-ES Spanish (Spain) Gen JAK2 p. V617F:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen JAK2 p. Val617Phe:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-CA French (Canada) Gène JAK2.p.Val617Phe:Présence-Seuil:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
fr-FR French (France) JAK2 gène p.Val617Phe:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) JAK2, gene.p.Val617Phe:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene JAK2 Gene JAK2 p.Val617Phe Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) JAK2-gen.p.V617F:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: JAK2 gen JAK2 gen.p.V617F molgen
pt-BR Portuguese (Brazil) JAK2 gene.p.V617F:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; JAK2 p.V617F; PV; Janus kinase 2 gene; Erythrocytosis; Polycythemia vera; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) JAK2 ген.p.V617F:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) JAK2 geni.p.V617F:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) JAK2 基因.p.V617F:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: JAK2 p.V617F 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 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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=43399-5