Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT c.*178_*2delGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGA
(
ENST00000310581.10 )
TERT p.Val747AlafsTer20 (p.V747Afs*20) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu38TrpfsTer40 (p.L38Wfs*40) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.*178_*2delGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGA ( ENST00000310581.10 )
TERT p.Val747AlafsTer20 (p.V747Afs*20) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu38TrpfsTer40 (p.L38Wfs*40) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Thr1110Met (p.T1110M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg865His (p.R865H) ( ENST00000334602.10, ENST00000310581.10 )
TERT c.2583-2A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>C ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg631Gln (p.R631Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg486Cys (p.R486C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val144Met (p.V144M) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu55Gln (p.L55Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro33Ser (p.P33S) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Thr1110Met (p.T1110M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg865His (p.R865H) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2583-2A>C ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg631Gln (p.R631Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg486Cys (p.R486C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val144Met (p.V144M) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Leu55Gln (p.L55Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro33Ser (p.P33S) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Idiopathic Pulmonary Fibrosis
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.492983059554726
- Year of publication
- NA
Drugs