Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000446179.5, ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
IDH1 R132 mutation in patients with AML is not associated with any prognostic value compared to patients with wild-type IDH1.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/324
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/59
Rating
2
Evidence Type
Prognostic
Disease
Acute Myeloid Leukemia
Evidence Direction
Does Not Support
Evidence Level
B
Clinical Significance
N/A
Pubmed
20538800
Drugs