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
- myelodysplastic syndrome
- Source Database
- ClinVar
- Description
- NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) AND Myelodysplastic syndrome
- 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
- 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/RCV000428106
- ClinVar Disease
- Myelodysplastic syndrome
- Observed Origin Sample
- somatic
Drugs