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
To analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain by identification of single tumor cells applying an antibody specific to mutant IDH1 R132H protein.
Pubmed
22158715
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2012
Drugs