BRCA1 Protein Variant

Preferred Label : BRCA1 Protein Variant;

NCIt synonyms : BRCA1/BRCA2-Containing Complex, Subunit 1 Protein Variant; Breast and Ovarian Cancer Susceptibility Protein 1 Protein Variant; Fanconi Anemia, Complementation Group S Protein Variant; Breast-Ovarian Cancer Protein Variant; Breast Cancer Type 1 Susceptibility Protein Variant;

NCIt definition : A variation in the amino acid sequence for breast cancer type 1 susceptibility protein.;

NCI Metathesaurus CUI : CL514258;

Details

Origin ID

C131467;

UMLS CUI

C4329432;

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_product_sequence_variation_encoded_by_gene_mutant
- BRCA1 Gene Mutation [NCIt concept]
- BRCA1 NM_007294.3:c.5265_5266insC [NCIt concept]
- BRCA1 NM_007294.3:c.68_69delAG [NCIt concept]
- Deleterious BRCA1 Gene Mutation [NCIt concept]
- Germline BRCA1 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Breast Cancer Type 1 Susceptibility Protein [NCIt concept]
molecular_abnormality_involves_gene
- BRCA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients