Preferred Label : TP53 NM_000546.5:c.742C T;
NCIt synonyms : Tumor Protein p53 c.742C T; TP53 c.742C T; LFS1 c.742C T; NM_000546.5:c.742C T; P53 c.742C T; Li-Fraumeni Syndrome c.742C T;
NCIt definition : A nucleotide substitution at position 742 of the coding sequence of the TP53 gene
where cytosine has been mutated to thymine.;
NCI Metathesaurus CUI : CL544915;
SNP ID : rs121912651;
Origin ID : C146904;
UMLS CUI : C4687555;
- Semantic type(s)
- gene_mutant_encodes_gene_product_sequence_variation
- molecular_abnormality_involves_gene