Preferred Label : EZH2 NP_004447.2:p.Y646H;
NCIt synonyms : EZH2 NP_004447.2:p.Tyr646His; NP_004447.2:p.Tyr646His; NP_004447.2:p.Y646H; Histone-Lysine N-Methyltransferase EZH2 Tyr646His; ENX-1 Tyr646His; Histone-Lysine N-Methyltransferase EZH2 Y646H; ENX-1 Y646H; Enhancer of Zeste Homolog 2 Tyr646His; Lysine N-Methyltransferase 6 Tyr646His; Enhancer of Zeste Homolog 2 Y646H; Lysine N-Methyltransferase 6 Y646H; EZH2 Tyr646His; EZH2 p.Tyr646His; EZH2 Y646H; EZH2 p.Y646H;
NCIt definition : A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase
EZH2 protein where tyrosine has been replaced by histidine.;
NCI Metathesaurus CUI : CL1793694;
Origin ID : C188774;
UMLS CUI : C5708023;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene