Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
GLYAT p.Arg131His (p.R131H)
(
ENST00000278400.3,
ENST00000344743.8,
ENST00000529732.5,
ENST00000611865.4 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
GLYAT p.Arg131His (p.R131H) ( ENST00000529732.5, ENST00000278400.3, ENST00000344743.8, ENST00000611865.4 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT-->CAT) being the most common (>85%).
- Pubmed
- 19340432
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.221550392854677
- Year of publication
- 2009
Drugs