|
rs1554579819
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |
|
rs1554579832
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |
|
rs1554579878
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
|
29499165 |
2018 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutational spectrum of Korean patients with corneal dystrophy.
|
26748743 |
2016 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
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.
|
23884333 |
2013 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
|
21462384 |
2011 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.
|
16809844 |
2006 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.
|
12400061 |
2002 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
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.
|
11004271 |
2000 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.
|
9497262 |
1998 |
|
rs766305306
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.
|
31438893 |
2019 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation.
|
29192679 |
2018 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2.
|
25932442 |
2015 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As the RBCD phenotype is usually associated with an R124L mutation, this novel genotype-phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy.
|
22906289 |
2012 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy.
|
21628991 |
2011 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
|
20664689 |
2010 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The corneal dystrophy-associated R124H mutation in TGFBI severely impairs interaction with periostin in vivo.
|
19478074 |
2009 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene.
|
10889112 |
2000 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.
|
10611102 |
2000 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
|
10422854 |
1999 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations.
|
9727418 |
1998 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
|
9780098 |
1998 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the <i>TGFBI</i> gene.
|
31322463 |
2019 |