Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
JAK2 MUTATION
JAK2 MUTATION
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- polycythemia
- Source Database
- DisGeNET
- Description
- Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients.
- Pubmed
- 22313642
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149484931924832
- Year of publication
- 2012
Drugs