Preferred Label : TP53 NM_000546.5:c.396G C;
NCIt synonyms : TP53 c.396G C; LFS1 c.396G C; NM_000546.5:c.396G C; P53 c.396G C; Li-Fraumeni Syndrome c.396G C; Tumor Protein p53 c.396G C;
NCIt definition : A nucleotide substitution at position 396 of the coding sequence of the TP53 gene
where guanine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1378881;
SNP ID : rs866775781;
Origin ID : C169078;
UMLS CUI : C5239367;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene