Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg140Gln (p.R140Q)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
- Pubmed
- 20410924
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2010
Drugs