BRCA1 NM_007294.3:c.68_69delAG

Preferred Label : BRCA1 NM_007294.3:c.68_69delAG;

NCIt synonyms : Breast Cancer 1, Early Onset c.68_69delAG; Breast Cancer 1 c.68_69delAG; BRCA1 c.68_69delAG; Breast Cancer Type 1 Susceptibility c.68_69delAG; NM_007294.3:c.68_69delAG; BRCA1 187delAG; BRCA1 185delAG; BROVCA1 c.68_69delAG; BRCA-1 c.68_69delAG;

NCIt definition : A deletion of the two nucleotides in positions 68 and 69 from the coding sequence of the BRCA1 gene.;

NCI Metathesaurus CUI : CL514255;

SNP ID : rs386833395;

Details

Origin ID

C131473;

UMLS CUI

C4319775;

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_mutant_encodes_gene_product_sequence_variation
- BRCA1 NP_009225.1:p.E23Vfs*17 [NCIt concept]
- BRCA1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- BRCA1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- Homologous Recombination Repair Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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