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.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 ) - Associated Disease
- Breast Cancer, Familial
- Source Database
- DisGeNET
- Description
- The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.
- Pubmed
- 15550452
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2005
Drugs