Annotation Detail

Information
Associated Genes
IDH2
Associated Variants
IDH2 p.Arg140Trp (p.R140W) ( ENST00000540499.2, ENST00000330062.8, ENST00000559482.5 )
IDH2 p.Arg140Trp (p.R140W) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND not provided
ClinVar Allele ID
362868
ClinVar RefSeq Alternation Syntax
NM_001290114.2:c.28C>T
ClinVar RefSeq Alternation Syntax
NM_001289910.1:c.262C>T
ClinVar RefSeq Alternation Syntax
NM_002168.4:c.418C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-05-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001796031
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs