Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Lys902Asn (p.K902N)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg631Gln (p.R631Q) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Lys902Asn (p.K902N) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Arg631Gln (p.R631Q) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs