Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Val1090Met (p.V1090M)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Ala1062Thr (p.A1062T) ( ENST00000334602.10, ENST00000310581.10 )
TERT p.Cys1015Arg (p.C1015R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg979Trp (p.R979W) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His876Gln (p.H876Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr846Cys (p.Y846C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr772Cys (p.Y772C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala716Val (p.A716V) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val694Met (p.V694M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala279Thr (p.A279T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala202Thr (p.A202T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val1090Met (p.V1090M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala1062Thr (p.A1062T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Cys1015Arg (p.C1015R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg979Trp (p.R979W) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His876Gln (p.H876Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr846Cys (p.Y846C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Tyr772Cys (p.Y772C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala716Val (p.A716V) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Val694Met (p.V694M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala279Thr (p.A279T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala202Thr (p.A202T) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- aplastic anemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.247534359069792
- Year of publication
- NA
Drugs