BRCA2 NP_000050.2:p.S1982Rfs*22

Preferred Label : BRCA2 NP_000050.2:p.S1982Rfs*22;

NCIt synonyms : Fanconi Anemia Group D1 Protein S1982Rfs; Breast and Ovarian Cancer Susceptibility Protein 2 Ser1982Argfs; Breast Cancer 2, Early Onset Protein Ser1982Argfs; BRCA1/BRCA2-Containing Complex, Subunit 2 S1982Rfs; BRCA2 p.Ser1982Argfs; BRCA2 Ser1982Argfs; Fanconi Anemia Group D1 Protein Ser1982Argfs; Breast Cancer Type 2 Susceptibility Protein S1982Rfs; Breast Cancer 2 Tumor Suppressor S1982Rfs; NP_000050.2:p.S1982Rfs; BRCA1/BRCA2-Containing Complex, Subunit 2 Ser1982Argfs; Breast and Ovarian Cancer Susceptibility Protein 2 S1982Rfs; Breast Cancer 2, Early Onset Protein S1982Rfs; Breast Cancer Type 2 Susceptibility Protein Ser1982Argfs; NP_000050.2:p.Ser1982Argfs; Breast Cancer 2 Tumor Suppressor Ser1982Argfs; BRCA2 p.S1982Rfs; BRCA2 S1982Rfs; BRCA2 NP_000050.2:p.Ser1982ArgfsTer22;

NCIt related terms : BRCA2 NP_000050.2:p.S1982Rfs;

NCIt definition : A change in the amino acid sequence of breast cancer type 2 susceptibility protein where a deletion mutation results in the replacement of the serine at position 1982 with an arginine followed by 21 non-canonical amino acids and a stop codon.;

NCI Metathesaurus CUI : CL514259;

Details

Origin ID

C131478;

UMLS CUI

C4329433;

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]
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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