LP36477-5
JAK2 gene.p.Val617Phe
Active
Descriptions
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
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
- Part Display Name
- JAK2 gene p.Val617Phe
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-01-11
- Construct for LOINC Short Name
- JAK2 p.V617F
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP36477-5 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP36477-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | JAK2 基因.p.V617F Synonyms: JAK2 p.V617F |
| fr-CA | French (Canada) | Gène JAK2.p.Val617Phe |
| et-EE | Estonian (Estonia) | JAK2 geen.p.V617F |
| es-ES | Spanish (Spain) | Gen JAK2 p. V617F |
| it-IT | Italian (Italy) | JAK2, gene.p.Val617Phe Synonyms: Gene JAK2 p.Val617Phe |
| tr-TR | Turkish (Turkey) | JAK2 geni.p.V617F |
| ru-RU | Russian (Russian Federation) | JAK2 ген.p.V617F |
| nl-NL | Dutch (Netherlands) | JAK2-gen.p.V617F Synonyms: JAK2 gen.p.V617F |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright