Annotation Detail

Information
Associated Genes
BARD1
Associated Variants
BARD1 p.Tyr404Ter (p.Y404*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Tyr404Ter (p.Y404*) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Glu652AspfsTer69 (p.E652Dfs*69)
BARD1 p.Glu652AspfsTer69 (p.E652Dfs*69)
Associated Disease
Breast Cancer, Familial
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.121085767488321
Year of publication
NA
Drugs