Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 p.Pro871Leu (p.P871L) ( ENST00000586385.5, ENST00000491747.6, ENST00000461574.2, ENST00000352993.7, ENST00000493795.5, ENST00000473961.6, ENST00000476777.6, ENST00000471181.7, ENST00000478531.6, ENST00000494123.6, ENST00000477152.6, ENST00000357654.9, ENST00000484087.6, ENST00000493919.6, ENST00000470026.6, ENST00000468300.5, ENST00000497488.2, ENST00000489037.2, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
BRCA1 p.Pro871Arg (p.P871R) ( ENST00000477152.6, ENST00000473961.6, ENST00000468300.5, ENST00000644555.2, ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000357654.9, ENST00000461574.2, ENST00000591534.5, ENST00000471181.7, ENST00000497488.2, ENST00000493919.6, ENST00000352993.7, ENST00000591849.5, ENST00000634433.2, ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6, ENST00000713676.1, ENST00000644379.2, ENST00000700182.1, ENST00000476777.6, ENST00000489037.2 )
BRCA1 p.Pro871Gln (p.P871Q) ( ENST00000591534.5, ENST00000471181.7, ENST00000497488.2, ENST00000357654.9, ENST00000461574.2, ENST00000352993.7, ENST00000493919.6, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000477152.6, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000493795.5, ENST00000700182.1, ENST00000476777.6, ENST00000489037.2, ENST00000634433.2, ENST00000591849.5, ENST00000713676.1, ENST00000644379.2, ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6 )
BRCA1 p.Pro871Leu (p.P871L) ( 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 )
BRCA1 p.Pro871Arg (p.P871R) ( 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 )
BRCA1 p.Pro871Gln (p.P871Q) ( 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 )
Associated Disease
stomach carcinoma
Source Database
DisGeNET
Description
The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population.
Pubmed
25266802
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00352874433704394
Year of publication
2014
Drugs