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
- Somatic mutation of Isocitrate dehydrogenase 1 (IDH1) at the locus of R132 (IDH1 (R132H)) occurs in > 70% of WHO grade II-III gliomas and secondary glioblastomas.
- Pubmed
- 22785212
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.221550392854677
- Year of publication
- 2012
Drugs