Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Ile654Leu (p.I654L) ( ENST00000541774.5, ENST00000584450.5, ENST00000445658.6, ENST00000406381.6, ENST00000269571.10, ENST00000584601.5 )
ERBB2 p.Ile654Val (p.I654V) ( ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000269571.10 )
ERBB2 p.Ile655Val (p.I655V) ( ENST00000445658.6, ENST00000584601.5, ENST00000541774.5, ENST00000584450.5, ENST00000269571.10, ENST00000406381.6 )
ERBB2 p.Ile655Phe (p.I655F) ( ENST00000445658.6, ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000269571.10, ENST00000541774.5 )
ERBB2 p.Ile654Leu (p.I654L) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile654Val (p.I654V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile655Val (p.I655V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile655Phe (p.I655F) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
Invasive breast carcinoma
Source Database
DisGeNET
Description
A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cancer.
Pubmed
15987431
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0323015827775561
Year of publication
2005
Drugs