Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
BRCA2-related disorder
Source Database
ClinVar
Description
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND BRCA2-related disorder
ClinVar Allele ID
46540
ClinVar RefSeq Alternation Syntax
NM_000059.4:c.5645C>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003483439
ClinVar Disease
BRCA2-related disorder
Observed Origin Sample
unknown
Drugs