Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg172Lys (p.R172K)
(
ENST00000540499.2,
ENST00000559482.5,
ENST00000330062.8 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 ) - Associated Disease
- hepatocellular carcinoma
- Source Database
- ClinVar
- Description
- NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) AND Hepatocellular carcinoma
- ClinVar Allele ID
- 362866
- ClinVar RefSeq Alternation Syntax
- NM_001289910.1:c.359G>A
- ClinVar RefSeq Alternation Syntax
- NM_002168.4:c.515G>A
- ClinVar RefSeq Alternation Syntax
- NM_001290114.2:c.125G>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/RCV000426009
- ClinVar Disease
- Hepatocellular carcinoma
- Observed Origin Sample
- somatic
Drugs