Annotation Detail
Information
- Associated Genes
- XRCC1
- 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 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 )
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 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 ) - Associated Disease
- Lymphoma, Large-Cell, Follicular
- Source Database
- DisGeNET
- Description
- Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among women who carried BRCA1 (rs799917) CT/TT, ERCC2 (rs13181) AA, XRCC1 (rs1799782) CC, and WRN (rs1801195) GG genotypes, but no increase in NHL risk among women who carried BRCA1 CC, ERCC2 AC/CC, XRCC1 CT/TT, and WRN GT/TT genotypes.
- Pubmed
- 23619945
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs