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
- Maffucci syndrome
- Source Database
- DisGeNET
- Description
- Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci syndrome.
- Pubmed
- 23485734
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- 2013
Drugs