Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 MUTATION
BRCA1 MUTATION
BRCA1 p.Cys61Gly (p.C61G) ( ENST00000489037.2, ENST00000476777.6, ENST00000700182.1, ENST00000470026.6, ENST00000491747.6, ENST00000586385.5, ENST00000618469.2, ENST00000713676.1, ENST00000644379.2, ENST00000591849.5, ENST00000634433.2, ENST00000493919.6, ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000471181.7, ENST00000497488.2, ENST00000591534.5, ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000477152.6, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5 )
BRCA1 p.Cys61Arg (p.C61R) ( ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000477152.6, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000493919.6, ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000471181.7, ENST00000497488.2, ENST00000591534.5, ENST00000470026.6, ENST00000491747.6, ENST00000586385.5, ENST00000618469.2, ENST00000713676.1, ENST00000644379.2, ENST00000591849.5, ENST00000634433.2, ENST00000489037.2, ENST00000476777.6, ENST00000700182.1 )
BRCA1 p.Cys61Ser (p.C61S) ( ENST00000591849.5, ENST00000634433.2, ENST00000470026.6, ENST00000491747.6, ENST00000586385.5, ENST00000618469.2, ENST00000713676.1, ENST00000644379.2, ENST00000476777.6, ENST00000700182.1, ENST00000489037.2, ENST00000477152.6, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000357654.9, ENST00000461574.2, ENST00000471181.7, ENST00000497488.2, ENST00000591534.5, ENST00000493919.6, ENST00000352993.7 )
BRCA1 p.Cys61Gly (p.C61G) ( 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 )
BRCA1 p.Cys61Arg (p.C61R) ( 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 )
BRCA1 p.Cys61Ser (p.C61S) ( 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
- Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).
- Pubmed
- 24528374
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2014
Drugs