Monoallelic TP53 Gene Mutation

Preferred Label : Monoallelic TP53 Gene Mutation;

NCIt synonyms : Monoallelic LFS1 Gene Mutation; Monoallelic p53 Gene Mutation; Monoallelic TRP53 Gene Mutation; Monoallelic Tumor Protein p53 Gene Mutation; Monoallelic Li-Fraumeni Syndrome Gene Mutation; Monoallelic BCC7 Gene Mutation;

NCIt definition : The presence of mutations in one allele of the TP53 gene.;

NCI Metathesaurus CUI : CL1907404;

Details

Origin ID

C200385;

UMLS CUI

C5856216;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Myelodysplastic Syndrome with Monoallelic TP53 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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