Preferred Label : TP53 NM_000546.5:c.638G A;
NCIt synonyms : P53 c.638G A; Li-Fraumeni Syndrome c.638G A; Tumor Protein p53 c.638G A; TP53 c.638G A; LFS1 c.638G A; NM_000546.5:c.638G A;
NCIt definition : A nucleotide substitution at position 638 of the coding sequence of the TP53 gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL1379013;
SNP ID : rs587778720;
Origin ID : C169083;
UMLS CUI : C5239371;
- Semantic type(s)
- molecular_abnormality_involves_gene