Preferred Label : TP53 NM_000546.5:c.380C A;
NCIt synonyms : TP53 c.380C A; LFS1 c.380C A; NM_000546.5:c.380C A; Li-Fraumeni Syndrome c.380C A; P53 c.380C A; Tumor Protein p53 c.380C A;
NCIt definition : A nucleotide substitution at position 380 of the coding sequence of the TP53 gene
where cytosine has been mutated to adenine.;
NCI Metathesaurus CUI : CL1407808;
SNP ID : rs730881999;
Origin ID : C174151;
UMLS CUI : C5420613;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene