Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg140Gln (p.R140Q)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- multiple myeloma
- Source Database
- ClinVar
- Description
- NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Multiple myeloma
- ClinVar Allele ID
- 29755
- ClinVar RefSeq Alternation Syntax
- NM_001290114.2:c.29G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289910.1:c.263G>A
- ClinVar RefSeq Alternation Syntax
- NM_002168.4:c.419G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000441454
- ClinVar Disease
- Multiple myeloma
- Observed Origin Sample
- somatic
Drugs