Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH2 p.Arg261His (p.R261H) ( ENST00000540499.2, ENST00000330062.8, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
glioblastoma
Source Database
DisGeNET
Description
ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma.
Pubmed
25427834
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0528427456204642
Year of publication
2014
Drugs