Variant: rs121909210 

    present in Gene: TGFBI
    present in Chromosome: 5
    Position on Chromosome: 136046406
    Alleles of this Variant: C/A;T

rs121909210 in TGFBI gene and Groenouw corneal dystrophy type I (disorder) PMID 15623763 2005 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

rs121909210 in TGFBI gene and Lattice corneal dystrophy Type I PMID 10837380 2000 To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found.

PMID 14597039 2003 A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

PMID 15838722 2005 Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation.

PMID 16541014 2006 Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

PMID 9799082 1998 A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

PMID 15623763 2005 Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.

PMID 15531312 2004 Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.

PMID 17013691 2006 A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

PMID 11413411 2001 Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.