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
breast carcinoma
Source Database
DisGeNET
Description
HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-control study in Slovakia.
Pubmed
16416013
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2006
Drugs