BRCA1 NP_009225.1:p.Q1756Pfs

**Semantic type:** Cell or Molecular Dysfunction

**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.

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