Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132His (p.R132H)
(
ENST00000345146.7,
ENST00000415913.5,
ENST00000446179.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- glioblastoma
- Source Database
- DisGeNET
- Description
- Isocitrate dehydrogenase 1 (IDH1) gene mutations, primarily of the R132H type, occur in approximately 60 - 90% of diffuse and anaplastic gliomas and secondary glioblastomas.
- Pubmed
- 21955925
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0528427456204642
- Year of publication
- 2011
Drugs