Preferred Label : TP53 NM_000546.5:c.396G T;
NCIt synonyms : Tumor Protein p53 c.396G T; TP53 c.396G T; LFS1 c.396G T; NM_000546.5:c.396G T; Li-Fraumeni Syndrome c.396G T; P53 c.396G T;
NCIt definition : A nucleotide substitution at position 396 of the coding sequence of the TP53 gene
where guanine has been mutated to thymine.;
NCI Metathesaurus CUI : CL1773584;
SNP ID : rs866775781;
Origin ID : C185319;
UMLS CUI : C5669837;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene