BRCA1 NP_009225.1:p.E23Vfs*17

Preferred Label : BRCA1 NP_009225.1:p.E23Vfs*17;

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

NCIt related terms : BRCA1 NP_009225.1:p.E23Vfs;

NCIt 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.;

NCI Metathesaurus CUI : CL514256;

Details

Origin ID

C131474;

UMLS CUI

C4329430;

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.68_69delAG [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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