BRCA1 NP_009225.1:p.Q1756Pfs

Preferred Label : BRCA1 NP_009225.1:p.Q1756Pfs;

NCIt synonyms : Fanconi Anemia, Complementation Group S Gln1756Profs; BRCA1/BRCA2-Containing Complex, Subunit 1 Protein Q1756Pfs; BRCA1/BRCA2-Containing Complex, Subunit 1 Protein Gln1756Profs; Breast Cancer Type 1 Susceptibility Protein Q1756Pfs; Breast-Ovarian Cancer Protein Q1756Pfs; BRCA1 p.Q1756Pfs; NP_009225.1:p.Q1756Pfs; BRCA1 Q1756Pfs; BRCA1 NP_009225.1:p.Gln1756Profs; Breast Cancer Type 1 Susceptibility Protein Gln1756Profs; Breast-Ovarian Cancer Protein Gln1756Profs; BRCA1 p.Gln1756Profs; NP_009225.1:p.Gln1756Profs; BRCA1 Gln1756Profs; Breast and Ovarian Cancer Susceptibility Protein 1 Protein Q1756Pfs; Breast and Ovarian Cancer Susceptibility Protein 1 Protein Gln1756Profs; Fanconi Anemia, Complementation Group S Q1756Pfs; BRCA1 p.(Gln1756ProfsTer74); BRCA1 Q1756Pfs*74;

NCIt definition : A change in the amino acid sequence of breast cancer type 1 susceptibility protein where an insertion mutation results in the replacement of the glutamine at position 1756 with a proline immediately followed by a stop codon.;

NCI Metathesaurus CUI : CL514257;

Details

Origin ID

C131476;

UMLS CUI

C4329431;

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]
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) :

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