Annotation Detail
Information
- Associated Genes
- EPO
- Associated Variants
-
EPO MUTATION
EPO 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 vera
- Source Database
- DisGeNET
- Description
- Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone marrow findings of erythroid hyperplasia and subtle megakaryocytic atypia, should prompt an evaluation for an exon 12 mutation.
- Pubmed
- 20472853
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.012486326115694
- Year of publication
- 2010
Drugs