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
- anaplastic astrocytoma
- Source Database
- DisGeNET
- Description
- C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutation in anaplastic astrocytoma.
- Pubmed
- 24473683
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00678604680200758
- Year of publication
- 2014
Drugs