|
rs766305306
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.
|
9497262 |
1998 |
|
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 |
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 |
|
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 |
Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation.
|
10611102 |
2000 |
|
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 |
|
rs121909208
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |
|
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 |
|
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 |
|
rs121909208
|
|
|
0.070 |
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 |
|
rs121909210
|
|
|
0.070 |
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 |
|
rs121909209
|
|
|
0.040 |
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 |
|
rs1052006472
|
|
|
0.020 |
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 |
|
rs1411887514
|
|
|
0.010 |
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 |
|
rs121909212
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.
|
12400061 |
2002 |
|
rs121909208
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine.
|
15564760 |
2005 |
|
rs121909209
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine.
|
15564760 |
2005 |
|
rs121909215
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The presence of clinical features considered atypical for a TGFBI-associated dystrophy in this pedigree, as well as the wide range of phenotypic expressions of the Gly623Asp mutation in affected members, underscore the clinical utility of molecular genetic analysis in the diagnosis of suspected corneal dystrophies.
|
15885785 |
2005 |
|
rs757933370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
|
16636649 |
2006 |
|
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 |
|
rs121909208
|
|
|
0.070 |
GeneticVariation |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
|
17768377 |
2007 |
|
rs121909210
|
|
|
0.070 |
GeneticVariation |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
|
17768377 |
2007 |