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
Malignant neoplasm of breast
Source Database
DisGeNET
Description
HER-2/neu Ile655Val polymorphism and the risk of breast cancer.
Pubmed
18837888
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2008
Drugs