Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg261His (p.R261H)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- D-2-hydroxyglutaric aciduria 2
- Source Database
- ClinVar
- Description
- NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND D-2-hydroxyglutaric aciduria 2
- ClinVar Allele ID
- 208231
- ClinVar RefSeq Alternation Syntax
- NM_002168.4:c.782G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289910.1:c.626G>A
- ClinVar RefSeq Alternation Syntax
- NM_001290114.2:c.392G>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000887014
- ClinVar Disease
- D-2-hydroxyglutaric aciduria 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs