Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:aminoAcidChange |
1849G>T
valine to phenylalanine at position 617 |
| gptkbp:associatedWith |
gptkb:polycythemia_vera
essential thrombocythemia primary myelofibrosis |
| gptkbp:clinicalTrialPhase |
PCR-based assay
|
| gptkbp:discoveredIn |
2005
|
| gptkbp:effect |
constitutive activation of JAK-STAT pathway
|
| gptkbp:HGVS |
NM_004972.3:c.1849G>T
|
| https://www.w3.org/2000/01/rdf-schema#label |
JAK2 V617F mutation
|
| gptkbp:inheritance |
somatic mutation
|
| gptkbp:locatedOnChromosome |
gptkb:9p24.1
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:OMIM |
614521
|
| gptkbp:prevalenceInEssentialThrombocythemia |
~50-60%
|
| gptkbp:prevalenceInPolycythemiaVera |
~95%
|
| gptkbp:prevalenceInPrimaryMyelofibrosis |
~50-60%
|
| gptkbp:proteinEffect |
gptkb:JAK2_p.Val617Phe
|
| gptkbp:regulates |
gptkb:JAK2
|
| gptkbp:significance |
diagnostic marker for myeloproliferative neoplasms
|
| gptkbp:bfsParent |
gptkb:polycythemia_vera
|
| gptkbp:bfsLayer |
6
|