TP53 NM_000546.5:c.818G T

Preferred Label : TP53 NM_000546.5:c.818G T;

NCIt synonyms : TP53 c.818G T; LFS1 c.818G T; NM_000546.5:c.818G T; P53 c.818G T; Li-Fraumeni Syndrome c.818G T; Tumor Protein p53 c.818G T;

NCIt definition : A nucleotide substitution at position 818 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.;

NCI Metathesaurus CUI : CL544898;

SNP ID : rs28934576;

Details

Origin ID

C146919;

UMLS CUI

C4687568;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R273L [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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