Nonsense mutation at L-serine 1180

coordinate 1180
created [InstanceEdit:9950763] Orlic-Milacic, Marija, 2025-05-28
dbId 9951028
displayName Nonsense mutation at L-serine 1180
modified [InstanceEdit:9951555] Orlic-Milacic, Marija, 2025-05-28
psiMod
referenceSequence [ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
schemaClass NonsenseMutation
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