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
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
Detection of IDH1 R132H mutation in acute myeloid leukemia by mutation-specific immunohistochemistry.
Pubmed
22172803
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0512055009979699
Year of publication
2012
Drugs