Reactome | loss_of_function of KMT2D LOF variants (WRAD binding) [nucleoplasm]

Schema > EntityFunctionalStatus > Entries

created	[InstanceEdit:9945025] Orlic-Milacic, Marija, 2025-04-08
dbId	9945022
diseaseEntity	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm]
displayName	loss_of_function of KMT2D LOF variants (WRAD binding) [nucleoplasm]
functionalStatus	[FunctionalStatus:2317386] loss_of_function via missense_variant [FunctionalStatus:2823060] loss_of_function via frameshift_truncation [FunctionalStatus:2409052] loss_of_function via stop_gained
modified	[InstanceEdit:9952996] Orlic-Milacic, Marija, 2025-05-28
normalEntity	[EntityWithAccessionedSequence:R-HSA-1183219] KMT2D [nucleoplasm]
schemaClass	EntityFunctionalStatus

(entityFunctionalStatus)

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