Annotation Detail
Information
- Associated Genes
- SF3B1
- Associated Variants
-
SF3B1 MUTATION
SF3B1 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
- Refractory anemia, without ringed sideroblasts, without excess blasts
- Source Database
- DisGeNET
- Description
- Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
- Pubmed
- 23594705
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2013
Drugs