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C131474Level 5

BRCA1 NP_009225.1:p.E23Vfs*17

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the amino acid sequence of breast cancer type 1 susceptibility protein where a deletion mutation results in the replacement of the glutamic acid at position 23 with a valine immediately by 16 non-canonical amino acids and a stop codon.

**Synonyms:** - BRCA1 E23Vfs*17 - BRCA1 Glu23Valfs - BRCA1 NP_009225.1:p.E23Vfs - BRCA1 NP_009225.1:p.Glu23Valfs - BRCA1 NP_009225.1:p.Glu23ValfsTer17 - BRCA1 p.(Glu23ValfsTer17) - BRCA1 p.Glu23Valfs - BRCA1/BRCA2-Containing Complex, Subunit 1 Protein E23Vfs - BRCA1/BRCA2-Containing Complex, Subunit 1 Protein Glu23Valfs - Breast Cancer Type 1 Susceptibility Protein E23Vfs - Breast Cancer Type 1 Susceptibility Protein Glu23Valfs - Breast and Ovarian Cancer Susceptibility Protein 1 Protein E23Vfs - Breast and Ovarian Cancer Susceptibility Protein 1 Protein Glu23Valfs - Breast-Ovarian Cancer Protein E23Vfs - Breast-Ovarian Cancer Protein Glu23Valfs - Fanconi Anemia, Complementation Group S E23Vfs - Fanconi Anemia, Complementation Group S Glu23Valfs - NP_009225.1:p.E23Vfs - NP_009225.1:p.Glu23Valfs

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