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
- blastic plasmacytoid dendritic cell neoplasm
- Source Database
- DisGeNET
- Description
- Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neoplasm in a patient with markedly elevated plasma d-2HG.
- Pubmed
- 25481493
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs