Preferred Label : TP53 NM_000546.5:c.523C T;
NCIt synonyms : Tumor Protein p53 c.523C T; TP53 c.523C T; LFS1 c.523C T; NM_000546.5:c.523C T; P53 c.523C T; Li-Fraumeni Syndrome c.523C T;
NCIt definition : A nucleotide substitution at position 523 of the coding sequence of the TP53 gene
where cytosine has been mutated to thymine.;
NCI Metathesaurus CUI : CL978839;
SNP ID : rs138729528;
Origin ID : C165578;
UMLS CUI : C5237285;
- Semantic type(s)
- molecular_abnormality_involves_gene