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
Chronic myeloproliferative disorder
Source Database
DisGeNET
Description
Prevalence of JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders.
Pubmed
20966521
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0461451182536516
Year of publication
2010
Drugs