Annotation Detail

Information
Associated Genes
NPM1
Associated Variants
NPM1 EXON 12 MUTATION
NPM1 EXON 12 MUTATION
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
NPM1 mutations were associated with de novo AML as well as M4 and M5 FAB subtypes.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/117
Gene URL
https://civic.genome.wustl.edu/links/genes/35
Variant URL
https://civic.genome.wustl.edu/links/variants/86
Rating
2
Evidence Type
Diagnostic
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Positive
Pubmed
17957027
Drugs