Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 R132
IDH1 R132
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
In leukemia patients, IDH1 R132 mutation is associated with adults and normal karyotype.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/223
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/58
Rating
2
Evidence Type
Diagnostic
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Positive
Pubmed
20376086
Drugs