Annotation Detail
Information
- Associated Genes
- PRKDC
- Associated Variants
-
BRCA1 p.Asp693Tyr (p.D693Y)
(
ENST00000644379.2,
ENST00000713676.1,
ENST00000491747.6,
ENST00000470026.6,
ENST00000618469.2,
ENST00000586385.5,
ENST00000634433.2,
ENST00000591849.5,
ENST00000489037.2,
ENST00000476777.6,
ENST00000700182.1,
ENST00000478531.6,
ENST00000484087.6,
ENST00000494123.6,
ENST00000493795.5,
ENST00000468300.5,
ENST00000644555.2,
ENST00000473961.6,
ENST00000477152.6,
ENST00000352993.7,
ENST00000493919.6,
ENST00000497488.2,
ENST00000471181.7,
ENST00000591534.5,
ENST00000461574.2,
ENST00000357654.9 )
BRCA1 p.Asp693Asn (p.D693N) ( ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000491747.6, ENST00000357654.9, ENST00000484087.6, ENST00000493795.5, ENST00000476777.6, ENST00000473961.6, ENST00000494123.6, ENST00000477152.6, ENST00000478531.6, ENST00000586385.5, ENST00000591534.5, ENST00000461574.2, ENST00000352993.7, ENST00000493919.6, ENST00000489037.2, ENST00000497488.2, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
PRKDC c.4412+39T>C ( ENST00000314191.7, ENST00000338368.7 )
PRKDC c.3847-634A>G ( ENST00000314191.7, ENST00000338368.7 )
PRKDC c.1623+6A>G ( ENST00000314191.7, ENST00000338368.7 )
BRCA1 p.Asp693Tyr (p.D693Y) ( 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.Asp693Asn (p.D693N) ( 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 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
PRKDC c.4413+39T>C ( ENST00000314191.7, ENST00000338368.7 )
PRKDC c.3848-634A>G ( ENST00000314191.7, ENST00000338368.7 )
PRKDC c.1623+6A>G ( ENST00000314191.7, ENST00000338368.7 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumulative occupational breast dose and risk of breast cancer (adjusted for personal diagnostic exposure) (p = 0.04) and BRCA1 D652N (rs4986850), PRKDC IVS15 + 6C > T (rs1231202), PRKDC IVS34 + 39T > C (rs8178097) and PRKDC IVS31 - 634C > A (rs10109984) significantly altered the personal diagnostic radiation exposure-response relationship (adjusted for occupational dose) (p < or = 0.05).
- Pubmed
- 17764108
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116396628910506
- Year of publication
- 2008
Drugs