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
Glioma
Source Database
DisGeNET
Description
Similarly, the R132H isocitrate dehydrogenase 1 IDH1 mutation, which can now be detected by use of a specific antibody, predicts better outcome in gliomas.
Pubmed
21516462
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2011
Drugs