TP53 NM_000546.5:c.741_742delinsTT

Preferred Label : TP53 NM_000546.5:c.741_742delinsTT;

NCIt synonyms : Li-Fraumeni Syndrome c.741_742delCCinsTT; P53 c.741_742delCCinsTT; P53 c.741_742CC TT; Li-Fraumeni Syndrome c.741_742CC TT; TP53 NM_000546.5:c.741_742CC TT; NM_000546.5:c.741_742delCCinsTT; LFS1 c.741_742delCCinsTT; TP53 c.741_742delCCinsTT; Tumor Protein p53 c.741_742CC TT; Tumor Protein p53 c.741_742delCCinsTT; TP53 c.741_742CC TT; LFS1 c.741_742CC TT; NM_000546.5:c.741_742CC TT; NM_000546.5:c.741_742delinsTT;

NCIt related terms : TP53 NM_000546.5:c.741_742delCCinsTT;

NCIt definition : A complex substitution where the nucleotide sequence at positions 741 and 742 of the coding sequence of the TP53 gene has changed from cytosine-cytosine to thymine-thymine.;

NCI Metathesaurus CUI : CL544901;

SNP ID : rs1555525498;

Details

Origin ID

C146905;

UMLS CUI

C4687556;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- TP53 NP_000537.3:p.R248W [NCIt concept]
- TP53 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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