Variant: rs121909212 

    present in Gene: TGFBI
    present in Chromosome: 5
    Position on Chromosome: 136055770
    Alleles of this Variant: C/A;G;T

rs121909212 in TGFBI gene and Corneal Dystrophy, Lattice Type IIIA PMID 15790870 2005 Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

PMID 9497262 1998 A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

rs121909212 in TGFBI gene and Corneal dystrophy PMID 11004271 2000 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

PMID 21462384 2011 Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

PMID 12400061 2002 Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

PMID 23884333 2013 Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy.

PMID 9497262 1998 A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

PMID 16809844 2006 A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

PMID 26748743 2016 Mutational spectrum of Korean patients with corneal dystrophy.