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
- Brain Neoplasms
- Source Database
- DisGeNET
- Description
- A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody.
- Pubmed
- 21643842
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.039924494502436
- Year of publication
- 2011
Drugs