Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 p.Arg132Cys (p.R132C)
(
ENST00000345146.7,
ENST00000446179.5,
ENST00000415913.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000446179.5, ENST00000345146.7, ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Li-Fraumeni syndrome
- Source Database
- DisGeNET
- Description
- Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.
- Pubmed
- 19340432
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs