Preferred Label : TP53 NM_000546.5:c.542G A;
NCIt synonyms : NM_000546.5:c.542G A; P53 c.542G A; Li-Fraumeni Syndrome c.542G A; Tumor Protein p53 c.542G A; TP53 c.542G A; LFS1 c.542G A;
NCIt definition : A nucleotide substitution at position 542 of the coding sequence of the TP53 gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL971004;
SNP ID : rs397514495;
Origin ID : C162395;
UMLS CUI : C5206556;
- Semantic type(s)
- molecular_abnormality_involves_gene