Annotation Detail
Information
- Associated Genes
- ATRX
- Associated Variants
-
IDH2 p.Arg261His (p.R261H)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Astrocytoma
- Source Database
- DisGeNET
- Description
- ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma.
- Pubmed
- 25427834
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2014
Drugs