Annotation Detail
Information
- Associated Genes
- BARD1
- Associated Variants
-
BARD1 p.Cys557Ser (p.C557S)
(
ENST00000421162.2,
ENST00000260947.9,
ENST00000613374.5,
ENST00000613706.5,
ENST00000617164.5,
ENST00000619009.5,
ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Ser (p.C557S) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 )
BARD1 p.Cys557Tyr (p.C557Y) ( ENST00000260947.9, ENST00000421162.2, ENST00000613374.5, ENST00000613706.5, ENST00000617164.5, ENST00000619009.5, ENST00000620057.4 ) - Associated Disease
- Breast Cancer, Familial
- Source Database
- DisGeNET
- Description
- The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.
- Pubmed
- 22544576
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- 2012
Drugs