Nonsense mutation at L-isoleucine 4440

coordinate 4440
created [InstanceEdit:9950763] Orlic-Milacic, Marija, 2025-05-28
dbId 9950827
displayName Nonsense mutation at L-isoleucine 4440
modified [InstanceEdit:9951555] Orlic-Milacic, Marija, 2025-05-28
psiMod
referenceSequence [ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
schemaClass NonsenseMutation
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