TP53 NM_000546.5:c.749C T

Preferred Label : TP53 NM_000546.5:c.749C T;

NCIt synonyms : TP53 c.749C T; LFS1 c.749C T; NM_000546.5:c.749C T; Li-Fraumeni Syndrome c.749C T; P53 c.749C T; Tumor Protein p53 c.749C T;

NCIt definition : A nucleotide substitution at position 749 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL1793662;

SNP ID : rs1064794311;

Details

Origin ID

C188742;

UMLS CUI

C5707999;

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

Keyword's position in hierarchy(ies) :

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