Preferred Label : TP53 NM_000546.5:c.817C A;
NCIt synonyms : Tumor Protein p53 c.817C A; TP53 c.817C A; LFS1 c.817C A; NM_000546.5:c.817C A; Li-Fraumeni Syndrome c.817C A; P53 c.817C A;
NCIt definition : A nucleotide substitution at position 817 of the coding sequence of the TP53 gene
where cytosine has been mutated to adenine.;
NCI Metathesaurus CUI : CL978821;
SNP ID : rs121913343;
Origin ID : C165580;
UMLS CUI : C5237287;
- Semantic type(s)
- molecular_abnormality_involves_gene