TP53 NP_000537.3:p.R248W

Preferred Label : TP53 NP_000537.3:p.R248W;

NCIt synonyms : TP53 Arg248Trp; TP53 R248W; TP53 p.Arg248Trp; TP53 p.R248W; Tumor Protein p53 Arg248Trp; Tumor Protein p53 R248W; TP53 NP_000537.3:p.Arg248Trp; NP_000537.3:p.Arg248Trp; Antigen NY-CO-13 Arg248Trp; NP_000537.3:p.R248W; Transformation-Related Protein 53 Arg248Trp; Antigen NY-CO-13 R248W; Transformation-Related Protein 53 R248W; Cellular Tumor Antigen p53 Arg248Trp; Cellular Tumor Antigen p53 R248W; Tumor Suppressor p53 Arg248Trp; Tumor Suppressor p53 R248W;

NCIt definition : A change in the amino acid residue at position 248 in the cellular tumor antigen p53 protein where arginine has been replaced by tryptophan.;

NCI Metathesaurus CUI : CL544902;

Details

Origin ID

C146906;

UMLS CUI

C4687557;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- TP53 Gene Mutation [NCIt concept]
- TP53 NM_000546.5:c.741_742delinsTT [NCIt concept]
- TP53 NM_000546.5:c.742C>T [NCIt concept]
gene_product_variant_of_gene_product
- Cellular Tumor Antigen p53 [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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