Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg140Gly (p.R140G)
(
ENST00000540499.2,
ENST00000559482.5,
ENST00000330062.8 )
IDH2 p.Arg140Gly (p.R140G) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- D-2-hydroxyglutaric aciduria 2
- Source Database
- ClinVar
- Description
- NM_002168.4(IDH2):c.418C>G (p.Arg140Gly) AND D-2-hydroxyglutaric aciduria 2
- ClinVar Allele ID
- 29756
- ClinVar RefSeq Alternation Syntax
- NM_001289910.1:c.262C>G
- ClinVar RefSeq Alternation Syntax
- NM_001290114.2:c.28C>G
- ClinVar RefSeq Alternation Syntax
- NM_002168.4:c.418C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015832
- ClinVar Disease
- D-2-hydroxyglutaric aciduria 2
- Observed Origin Sample
- germline
- Pubmed
- 24049096
- Pubmed
- 20847235
Drugs