BRCA1 NM_007294.3:c.5265_5266insC

Preferred Label : BRCA1 NM_007294.3:c.5265_5266insC;

NCIt synonyms : Breast Cancer Type 1 Susceptibility c.5265_5266insC; BRCA1 c.5265_5266insC; Breast Cancer 1 c.5265_5266insC; Breast Cancer 1, Early Onset c.5265_5266insC; BRCA-1 c.5265_5266insC; BROVCA1 c.5265_5266insC; BRCA1 5382insC; NM_007294.3:c.5265_5266insC; NM_007294.3c.5266dupC; BRCA1 5382_5383insC,5382insC; BRCA1 c.5266dupC; NM_007294.3:c.5266dup; BRCA1 c.5266dup;

NCIt definition : An insertion of a single cytosine nucleotide between positions 5265 and 5266 of the coding sequence of the BRCA1 gene.;

NCI Metathesaurus CUI : CL514254;

SNP ID : rs397507246;

Details

Origin ID

C131475;

UMLS CUI

C4321354;

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
- BRCA1 NP_009225.1:p.Q1756Pfs [NCIt concept]
- BRCA1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- BRCA1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- Homologous Recombination Repair Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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