53761-3
JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method
Active
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).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- JAK2 gene.p.Val617Phe mutant/normal
- Property
- RelRto
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Qn
- Method
- Molgen
Additional Names
- 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
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 5490
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: JAK2 Genmutation V617F qn. |
| es-ES | Spanish (Spain) | Gen JAK2 p.V617F alelo mutado/Normal: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Gen JAK2 p. Val617 Phe mutante / normal: |
| fr-FR | French (France) | JAK2 gène p.Val617Phe mutant/normal: |
| it-IT | Italian (Italy) | JAK2, gene.p.Val617Phe mutante/Normale: 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 & |
| nl-NL | Dutch (Netherlands) | JAK2-gen.p.V617F mutant/normaal: Synonyms: JAK2 gen JAK2 gen.p.V617F JAK2 gen.p.V617F mutant molgen |
| pt-BR | Portuguese (Brazil) | JAK2 gene.p.V617F mutante/normal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | JAK2 ген.p.V617F мутант/Нормальный: Synonyms: Количественный Кровь Кровь или Ткань Относительный показатель; |
| tr-TR | Turkish (Turkey) | JAK2 geni.p.V617F mutant/Normal: |
| zh-CN | Chinese (China) | JAK2 基因.p.V617F 突变体/正常: Synonyms: JAK2 p.V617F JAK2 基因.p.V617F 突变 Janus 激酶 2 基因; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
| % | REGENSTRIEF |
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=53761-3
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://