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
Our results indicate that the IDH1 R132H mutation is a powerful prognostic marker in GBM treated with chemoradiation.
Pubmed
20560678
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0528427456204642
Year of publication
2010
Drugs