BRCA2 NM_000059.3:c.5946delT

Preferred Label : BRCA2 NM_000059.3:c.5946delT;

NCIt synonyms : NM_000059.3:c.5946_5946delT; BRCA2 NM_000059.3:c.5946_5946delT; Breast Cancer 2, Early Onset Gene c.5946delT; Breast Cancer 2 c.5946delT; BRCA2 c.5946delT; BRCC2 c.5946delT; FANCD1 c.5946delT; BRCA2 6174delT; BROVCA2 c.5946delT; BRCA2 c.5946_5946delT; Breast Cancer Type 2 Susceptibility Gene c.5946delT; NM_000059.3:c.5946delT; XRCC11 c.5946delT;

NCIt definition : A deletion of the thymine nucleotide at position 5946 of the coding sequence of the BRCA2 gene.;

NCI Metathesaurus CUI : CL373194;

SNP ID : rs80359550;

Details

Origin ID

C131477;

UMLS CUI

C4318454;

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
- BRCA2 NP_000050.2:p.S1982Rfs*22 [NCIt concept]
- BRCA2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRCA Gene Family [NCIt concept]
- BRCA2 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]
- X-Ray Cross Complementing Group [NCIt concept]

Keyword's position in hierarchy(ies) :

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