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
The aim of this study was to evaluate the prognostic relevance of an antibody specifically detecting the R132H point mutation of IDH1 in tissue sections in a large series of human gliomas.
Pubmed
21845536
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2011
Drugs