Annotation Detail
Information
- Associated Genes
- BRCA1
- 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 )
BRCA1 p.Ile783Val (p.I783V) ( ENST00000352993.7, ENST00000491747.6, ENST00000471181.7, ENST00000468300.5, ENST00000591534.5, ENST00000461574.2, ENST00000497488.2, ENST00000470026.6, ENST00000477152.6, ENST00000493919.6, ENST00000484087.6, ENST00000357654.9, ENST00000473961.6, ENST00000494123.6, ENST00000591849.5, ENST00000478531.6, ENST00000493795.5, ENST00000586385.5, ENST00000476777.6, ENST00000489037.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
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 )
BRCA1 p.Ile783Val (p.I783V) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mutation carriers, although these results are based on small numbers.
- Pubmed
- 14569185
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2003
Drugs