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
- Granular Dystrophy, Corneal
- Source Database
- DisGeNET
- Description
- A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.
- Pubmed
- 9930165
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 1999
Drugs