BRCA2 Protein Variant

Preferred Label : BRCA2 Protein Variant;

NCIt synonyms : Breast Cancer 2 Tumor Suppressor Protein Variant; Breast Cancer 2, Early Onset Protein Variant; BRCA1/BRCA2-Containing Complex, Subunit 2 Protein Variant; Breast and Ovarian Cancer Susceptibility Protein 2 Protein Variant; Fanconi Anemia Group D1 Protein Variant; Breast Cancer Type 2 Susceptibility Protein Variant;

NCIt definition : A variation in the amino acid sequence for breast cancer type 2 susceptibility protein.;

NCI Metathesaurus CUI : CL514260;

Details

Origin ID

C131468;

UMLS CUI

C4329434;

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
- BRCA2 Gene Mutation [NCIt concept]
- BRCA2 NM_000059.3:c.5946delT [NCIt concept]
- Deleterious BRCA2 Gene Mutation [NCIt concept]
- Germline BRCA2 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Breast Cancer Type 2 Susceptibility Protein [NCIt concept]
molecular_abnormality_involves_gene
- BRCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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