Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg261His (p.R261H)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000446179.5, ENST00000415913.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000446179.5, ENST00000345146.7, ENST00000415913.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132Ser (p.R132S) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- hemangioma
- Source Database
- DisGeNET
- Description
- We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).
- Pubmed
- 22057234
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- 2011
Drugs