Preferred Label : TP53 NP_000537.3:p.P250L;
NCIt synonyms : Tumor Protein p53 P250L; NP_000537.3:p.Pro250Leu; Antigen NY-CO-13 Pro250Leu; Transformation-Related Protein 53 Pro250Leu; Cellular Tumor Antigen p53 Pro250Leu; Tumor Suppressor p53 Pro250Leu; TP53 Pro250Leu; TP53 p.Pro250Leu; Tumor Protein p53 Pro250Leu; TP53 P250L Mutation; Antigen NY-CO-13 P250L; NP_000537.3:p.P250L; Transformation-Related Protein 53 P250L; Cellular Tumor Antigen p53 P250L; Tumor Suppressor p53 P250L; TP53 P250L; TP53 NP_000537.3:p.Pro250Leu; TP53 p.P250L;
NCIt definition : A change in the amino acid residue at position 250 in the cellular tumor antigen p53
protein where proline has been replaced by leucine.;
NCI Metathesaurus CUI : CL1793661;
Origin ID : C188743;
UMLS CUI : C5708000;
- Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene