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
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women.
- Pubmed
- 16825437
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.114180607927031
- Year of publication
- 2006
Drugs