LOINC
Version 2.67

LP36477-5JAK2 gene p.Val617PheActive

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 thromobcytopenia 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

Basic Part Properties

Name
JAK2 gene.p.Val617Phe
Type
Component
Created On
2006-01-11
Construct for LOINC Short Name
JAK2 p.V617F

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36477-5

Language Variants Get Info

zh-CNChinese (CHINA)
JAK2 基因.p.V617F
Synonyms: JAK2 p.V617F
nl-NLDutch (NETHERLANDS)
JAK2-gen.p.V617F
Synonyms: JAK2 gen.p.V617F
et-EEEstonian (ESTONIA)
JAK2 geen.p.V617F
fr-CAFrench (CANADA)
Gène JAK2.p.Val617Phe
it-ITItalian (ITALY)
JAK2, gene.p.Val617Phe
Synonyms: Gene JAK2 p.Val617Phe
ru-RURussian (RUSSIAN FEDERATION)
JAK2 ген.p.V617F
es-ESSpanish (SPAIN)
Gen JAK2 p. V617F
tr-TRTurkish (TURKEY)
JAK2 geni.p.V617F