rs267607387
|
KRT12;LOC105371777
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
|
9399908 |
1997 |
rs267607387
|
KRT12;LOC105371777
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The IC3D classification of the corneal dystrophies.
|
19337156 |
2008 |
rs57218384
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
rs58038639
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
|
12543196 |
2003 |
rs58162394
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
rs58343600
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous missense mutations in K3 (E509K) and in K12 (V143L; R135T) completely co-segregated with MCD in the families and were not found in 100 normal unrelated chromosomes.
|
9171831 |
1997 |
rs58918655
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
rs59202432
|
KRT12;LOC105371777
|
Macular dystrophy, corneal type 1
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
|
16227835 |
2005 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
|
18661274 |
2008 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
|
24099278 |
2014 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
The clinical effects are markedly more severe than the phenotype usually associated with the Arg135Thr mutation within this motif, most frequently seen in European patients with MECD.
|
23222558 |
2013 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
|
20577595 |
2010 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
To identify an allele-specific short interfering RNA (siRNA), against the common KRT12 mutation Arg135Thr in Meesmann epithelial corneal dystrophy (MECD) as a personalized approach to treatment.
|
23233254 |
2013 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
|
18245975 |
2008 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
|
9399908 |
1997 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
|
16352477 |
2005 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
The clinical effects are markedly more severe than the phenotype usually associated with the Arg135Thr mutation within this motif, most frequently seen in European patients with MECD.
|
23222558 |
2013 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
|
17653038 |
2007 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
|
10644419 |
2000 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
|
15148206 |
2004 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
BEFREE |
Using a cell-culture assay of keratin filament formation, mutation Leu132Pro was shown to be significantly more disruptive than the most common mutation, Arg135Thr, which is associated with typical, mild MECD.
|
22174841 |
2011 |
rs57218384
|
KRT12;LOC105371777
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
|
0.730 |
GeneticVariation |
UNIPROT |
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
|
16227835 |
2005 |