Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg979Trp (p.R979W)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Lys902Asn (p.K902N) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Thr726Met (p.T726M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro721Arg (p.P721R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro704Ser (p.P704S) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Gly682Asp (p.G682D) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Gly677Cys (p.G677C) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg979Trp (p.R979W) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Lys902Asn (p.K902N) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Thr726Met (p.T726M) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro721Arg (p.P721R) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Pro704Ser (p.P704S) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Gly682Asp (p.G682D) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Gly677Cys (p.G677C) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.241085767488321
- Year of publication
- NA
Drugs