Annotation Detail

Information
Associated Genes
CYP1A1
Associated Variants
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5, ENST00000395048.6 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000617691.4, ENST00000567032.5, ENST00000379727.8, ENST00000395049.8, ENST00000395048.6 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000395048.6, ENST00000617691.4, ENST00000395049.8, ENST00000379727.8, ENST00000567032.5 )
CYP1A1 p.Ile462Phe (p.I462F) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
CYP1A1 p.Ile462Leu (p.I462L) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 )
Associated Disease
Hereditary Nonpolyposis Colorectal Cancer
Source Database
DisGeNET
Description
Our results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years.
Pubmed
18768509
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2008
Drugs