Preferred Label : TP53 NM_000546.5:c.746G T;
NCIt synonyms : Tumor Protein p53 c.746G T; TP53 c.746G T; LFS1 c.746G T; NM_000546.5:c.746G T; Li-Fraumeni Syndrome c.746G T; P53 c.746G T;
NCIt definition : A nucleotide substitution at position 746 of the coding sequence of the TP53 gene
where guanine has been mutated to thymine.;
NCI Metathesaurus CUI : CL1407818;
SNP ID : rs587782329;
Origin ID : C174155;
UMLS CUI : C5420617;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene