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
Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.
Pubmed
20077503
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.221550392854677
Year of publication
2010
Drugs