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
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers.
- Pubmed
- 16261409
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.28
- Year of publication
- 2005
Drugs