Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124His (p.R124H)
(
ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 )
TGFBI p.Arg124His (p.R124H) ( ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 ) - Associated Disease
- Avellino corneal dystrophy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.485157395569526
- Year of publication
- NA
Drugs