NPM1 mutation

GPTKB entity

Statements (22)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects gptkb:NPM1_gene
gptkbp:associatedWith gptkb:acute_myeloid_leukemia
gptkbp:cause cytoplasmic localization of NPM1 protein
gptkbp:co-occursWith gptkb:DNMT3A_mutation
gptkb:FLT3-ITD_mutation
gptkbp:commonIn adult AML
pediatric AML
gptkbp:detects PCR
sequencing
gptkbp:firstDescribed 2005
gptkbp:frequencyInAML ~30%
https://www.w3.org/2000/01/rdf-schema#label NPM1 mutation
gptkbp:impact myeloid differentiation
gptkbp:includedIn gptkb:WHO_classification_of_myeloid_neoplasms
gptkbp:OMIM 164040
gptkbp:prognosticSignificance favorable prognosis in absence of FLT3-ITD
gptkbp:target minimal residual disease monitoring
gptkbp:type frameshift mutation in exon 12
gptkbp:usedFor risk stratification in AML
gptkbp:bfsParent gptkb:acute_myeloid_leukemia
gptkbp:bfsLayer 5