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
Lymphoma, Non-Hodgkin
Source Database
DisGeNET
Description
Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML.
Pubmed
20946881
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2010
Drugs