TP53 NM_000546.5:c.638G T

Preferred Label : TP53 NM_000546.5:c.638G T;

NCIt synonyms : Tumor Protein p53 c.638G T; TP53 c.638G T; LFS1 c.638G T; NM_000546.5:c.638G T; P53 c.638G T; Li-Fraumeni Syndrome c.638G T;

NCIt definition : A nucleotide substitution at position 638 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.;

NCI Metathesaurus CUI : CL544929;

SNP ID : rs587778720;

Details

Origin ID

C146887;

UMLS CUI

C4687540;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R213L [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients