Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BLM p.Thr298Met (p.T298M)
(
ENST00000681142.1,
ENST00000680772.1,
ENST00000560509.5,
ENST00000648453.1,
ENST00000355112.8 )
BRCA1 p.Met1400Thr (p.M1400T) ( ENST00000713676.1, ENST00000644379.2, ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6, ENST00000634433.2, ENST00000591849.5, ENST00000489037.2, ENST00000700182.1, ENST00000476777.6, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000493795.5, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000477152.6, ENST00000352993.7, ENST00000493919.6, ENST00000591534.5, ENST00000471181.7, ENST00000497488.2, ENST00000357654.9, ENST00000461574.2 )
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 )
WRN p.Pro870Leu (p.P870L) ( ENST00000298139.7 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 )
BLM p.Thr298Met (p.T298M) ( ENST00000355112.8, ENST00000560509.5, ENST00000648453.1, ENST00000680772.1, ENST00000681142.1 )
BRCA1 p.Met1400Thr (p.M1400T) ( 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.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 )
WRN p.Pro870Leu (p.P870L) ( ENST00000298139.7 )
WRN p.Leu1074Phe (p.L1074F) ( ENST00000298139.7 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women.
- Pubmed
- 19205873
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2009
Drugs