Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg901Trp (p.R901W)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg811Cys (p.R811C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro704Ser (p.P704S) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg901Trp (p.R901W) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg811Cys (p.R811C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro704Ser (p.P704S) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs