Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg124His (p.R124H)
(
ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 )
TGFBI p.Arg555Gln (p.R555Q) ( ENST00000442011.7 )
TGFBI p.Arg124His (p.R124H) ( ENST00000442011.7 )
TGFBI p.Arg124Leu (p.R124L) ( ENST00000442011.7 )
TGFBI p.Arg555Gln (p.R555Q) ( ENST00000442011.7 ) - Associated Disease
- Reis-Bucklers' corneal dystrophy
- Source Database
- DisGeNET
- Description
- Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined.
- Pubmed
- 17198850
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482985860592883
- Year of publication
- 2007
Drugs