Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 p.Arg1720Leu (p.R1720L)
(
ENST00000591849.5,
ENST00000634433.2,
ENST00000470026.6,
ENST00000491747.6,
ENST00000586385.5,
ENST00000618469.2,
ENST00000713676.1,
ENST00000644379.2,
ENST00000476777.6,
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.Arg1720Pro (p.R1720P) ( ENST00000493795.5, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000477152.6, ENST00000473961.6, ENST00000468300.5, ENST00000644555.2, ENST00000493919.6, ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000591534.5, ENST00000471181.7, ENST00000497488.2, ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6, ENST00000713676.1, ENST00000644379.2, ENST00000591849.5, ENST00000634433.2, ENST00000489037.2, ENST00000476777.6 )
BRCA1 p.Arg1720Gln (p.R1720Q) ( ENST00000591849.5, ENST00000478531.6, ENST00000493795.5, ENST00000352993.7, ENST00000493919.6, ENST00000468300.5, ENST00000491747.6, ENST00000484087.6, ENST00000471181.7, ENST00000357654.9, ENST00000586385.5, ENST00000591534.5, ENST00000461574.2, ENST00000470026.6, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000489037.2, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Arg1720Trp (p.R1720W) ( ENST00000484087.6, ENST00000357654.9, ENST00000493919.6, ENST00000591534.5, ENST00000591849.5, ENST00000586385.5, ENST00000491747.6, ENST00000352993.7, ENST00000468300.5, ENST00000471181.7, ENST00000478531.6, ENST00000493795.5, ENST00000461574.2, ENST00000470026.6, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000489037.2, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Arg1720= (p.R1720=) ( ENST00000489037.2, ENST00000476777.6, ENST00000713676.1, ENST00000644379.2, ENST00000470026.6, ENST00000491747.6, ENST00000586385.5, ENST00000618469.2, ENST00000634433.2, ENST00000591849.5, ENST00000352993.7, ENST00000493919.6, ENST00000471181.7, ENST00000497488.2, ENST00000591534.5, ENST00000357654.9, ENST00000461574.2, ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000493795.5, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000477152.6 )
BRCA1 p.Arg1720Leu (p.R1720L) ( 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, ENST00000713676.1 )
BRCA1 p.Arg1720Pro (p.R1720P) ( 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, ENST00000713676.1 )
BRCA1 p.Arg1720Gln (p.R1720Q) ( 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, ENST00000713676.1 )
BRCA1 p.Arg1720Trp (p.R1720W) ( 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, ENST00000713676.1 )
BRCA1 p.Arg1720= (p.R1720=) ( 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, ENST00000713676.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).
- Pubmed
- 22889855
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2012
Drugs