Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Pro9Leu (p.P9L)
(
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2,
ENST00000530893.7,
ENST00000380152.8,
ENST00000544455.6 )
BRCA1 p.Leu138Pro (p.L138P) ( ENST00000491747.6, ENST00000352993.7, ENST00000468300.5, ENST00000591534.5, ENST00000591849.5, ENST00000471181.7, ENST00000478531.6, ENST00000494123.6, ENST00000586385.5, ENST00000493795.5, ENST00000473961.6, ENST00000476777.6, ENST00000484087.6, ENST00000357654.9, ENST00000489037.2, ENST00000493919.6, ENST00000477152.6, ENST00000497488.2, ENST00000470026.6, ENST00000461574.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
BRCA2 p.Pro9Leu (p.P9L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA1 p.Leu138Pro (p.L138P) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.
- Pubmed
- 18523885
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2009
Drugs