TP53 NM_000546.5:c.743G A

Preferred Label : TP53 NM_000546.5:c.743G A;

NCIt synonyms : Li-Fraumeni Syndrome c.743G A; P53 c.743G A; Tumor Protein p53 c.743G A; TP53 c.743G A; LFS1 c.743G A; NM_000546.5:c.743G A;

NCIt definition : A nucleotide substitution at position 743 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL544912;

SNP ID : rs11540652;

Details

Origin ID

C146901;

UMLS CUI

C4687552;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R248Q [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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