Annotation Detail
Information
- Associated Genes
- CYP19A1
- Associated Variants
-
CYP19A1 MUTATION
CYP19A1 MUTATION
PGR p.Val660Leu (p.V660L) ( ENST00000534013.5, ENST00000263463.9, ENST00000619228.2, ENST00000325455.10 )
CYP19A1 c.*19C>T ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.-38-875G>A ( ENST00000557858.5, ENST00000396404.8, ENST00000396402.6 )
SHBG p.Asp356Asn (p.D356N) ( ENST00000570547.5, ENST00000416273.7, ENST00000380450.9, ENST00000572182.5, ENST00000572262.5, ENST00000340624.9, ENST00000575314.5, ENST00000575903.5, ENST00000574539.5, ENST00000576478.5, ENST00000441599.6, ENST00000576728.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
PGR p.Val660Leu (p.V660L) ( ENST00000263463.9, ENST00000325455.10, ENST00000534013.5, ENST00000619228.2 )
CYP19A1 c.*19C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
CYP19A1 c.-38-875G>A ( ENST00000396402.6, ENST00000396404.8, ENST00000557858.5 )
SHBG p.Asp356Asn (p.D356N) ( ENST00000340624.9, ENST00000380450.9, ENST00000416273.7, ENST00000441599.6, ENST00000570547.5, ENST00000572182.5, ENST00000572262.5, ENST00000574539.5, ENST00000575314.5, ENST00000575903.5, ENST00000576478.5, ENST00000576728.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer.
- Pubmed
- 23935996
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.113930234010038
- Year of publication
- 2013
Drugs