TP53 NM_000546.5:c.817C T

Preferred Label : TP53 NM_000546.5:c.817C T;

NCIt synonyms : TP53 c.817C T; LFS1 c.817C T; NM_000546.5:c.817C T; Li-Fraumeni Syndrome c.817C T; P53 c.817C T; Tumor Protein p53 c.817C T;

NCIt definition : A nucleotide substitution at position 817 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL544896;

SNP ID : rs121913343;

Details

Origin ID

C146916;

UMLS CUI

C4687566;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R273C [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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