TP53 NM_000546.5:c.743_744delinsAA

Preferred Label : TP53 NM_000546.5:c.743_744delinsAA;

NCIt synonyms : P53 c.743_744GG AA; TP53 NM_000546.5:c.743_744GG AA; Li-Fraumeni Syndrome c.743_744GG AA; Li-Fraumeni Syndrome c.743_744delGGinsAA; P53 c.743_744delGGinsAA; NM_000546.5:c.743_744delGGinsAA; Tumor Protein p53 c.743_744GG AA; LFS1 c.743_744delGGinsAA; TP53 c.743_744delGGinsAA; TP53 c.743_744GG AA; LFS1 c.743_744GG AA; Tumor Protein p53 c.743_744delGGinsAA; NM_000546.5:c.743_744GG AA; NM_000546.5:c.743_744delinsAA;

NCIt related terms : TP53 NM_000546.5:c.743_744delGGinsAA;

NCIt definition : A complex substitution where the nucleotide sequence at positions 743 and 744 of the coding sequence of the TP53 gene has changed from guanine-guanine to adenine-adenine.;

NCI Metathesaurus CUI : CL544913;

Details

Origin ID

C146902;

UMLS CUI

C4687553;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R248Q [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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