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
not provided
Source Database
ClinVar
Description
NM_002168.4(IDH2):c.782G>A (p.Arg261His) AND not provided
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
Likely benign
Clinical Significance Last Update
2024-04-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002262784
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs