Disruptive TP53 Mutation

Preferred Label : Disruptive TP53 Mutation;

NCIt definition : Any mutation of the TP53 gene that results in a nonconservative mutation within the key DNA-binding domain (L2-L3 region) of the p53 protein, or a stop codon in any region.;

NCI Metathesaurus CUI : CL504540;

Details

Origin ID

C125888;

UMLS CUI

C4289679;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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