Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT MUTATION
TERT MUTATION
TERF2 c.607-728T>C ( ENST00000567296.6, ENST00000254942.8 )
TERT c.2583-706A>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1950+245C>T ( ENST00000310581.10, ENST00000334602.10 )
TNKS c.1107+9551G>A ( ENST00000310430.11, ENST00000517770.2, ENST00000518281.5, ENST00000520408.5 )
TERF2 c.607-728T>C ( ENST00000254942.8, ENST00000567296.6 )
TERT c.2583-706A>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1950+245C>T ( ENST00000310581.10, ENST00000334602.10 )
TNKS c.1107+9551G>A ( ENST00000310430.11, ENST00000517770.2, ENST00000518281.5, ENST00000520408.5 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97).
- Pubmed
- 23629941
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00922902365073031
- Year of publication
- 2013
Drugs