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
- Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with idiopathic erythrocytosis.
- Pubmed
- 19500139
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149484931924832
- Year of publication
- 2009
Drugs