Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg261His (p.R261H)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000540499.2, ENST00000559482.5, ENST00000330062.8 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- anaplastic oligodendroglioma
- Source Database
- DisGeNET
- Description
- The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH1-R132H or IDH2-R172K).
- Pubmed
- 25277207
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122442976848723
- Year of publication
- 2015
Drugs