Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000446179.5, ENST00000415913.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000446179.5, ENST00000345146.7, ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
Glioma
Source Database
DisGeNET
Description
We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis of mutation-bearing gliomas.
Pubmed
21352804
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2011
Drugs