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
- Seizures
- Source Database
- DisGeNET
- Description
- 1p19q co-deletion status did not predict seizures when controlled for mutant IDH1-R132H expression, tumor location, or enhancement status (odds ratio (OR) 0.9, 95% confidence interval (CI) 0.1 - 4.3).
- Pubmed
- 24986208
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2014
Drugs