Preferred Label : TP53 NM_000546.5:c.818G A;
NCIt synonyms : Tumor Protein p53 c.818G A; TP53 c.818G A; LFS1 c.818G A; NM_000546.5:c.818G A; P53 c.818G A; Li-Fraumeni Syndrome c.818G A;
NCIt definition : A nucleotide substitution at position 818 of the coding sequence of the TP53 gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL544894;
SNP ID : rs28934576;
Origin ID : C146914;
UMLS CUI : C4687564;
Semantic type(s)
gene_mutant_encodes_gene_product_sequence_variation
molecular_abnormality_involves_gene