Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL MUTATION
MPL 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
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis.
- Pubmed
- 21228032
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0514070483465319
- Year of publication
- 2011
Drugs