Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 c.*421G>T
(
ENST00000494123.6,
ENST00000478531.6,
ENST00000477152.6,
ENST00000473961.6,
ENST00000644555.2,
ENST00000468300.5,
ENST00000493919.6,
ENST00000352993.7,
ENST00000357654.9,
ENST00000461574.2,
ENST00000471181.7,
ENST00000497488.2,
ENST00000618469.2,
ENST00000470026.6,
ENST00000713676.1,
ENST00000644379.2,
ENST00000634433.2,
ENST00000489037.2,
ENST00000476777.6 )
BRCA1 c.*421G>T ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000489037.2, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 ) - Associated Disease
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predict breast and ovarian cancer risk in women from high-risk families, as well as increased risk of triple negative breast cancer.
- Pubmed
- 24915755
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.28
- Year of publication
- 2014
Drugs