rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
T |
0.800 |
CausalMutation |
CLINVAR |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
rs74315439
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
rs74315441
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
|
23508780 |
2013 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.
|
22216983 |
2012 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
|
22045060 |
2012 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.
|
22347476 |
2012 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
T |
0.800 |
CausalMutation |
CLINVAR |
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
|
22045060 |
2012 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
|
22140512 |
2011 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
T |
0.800 |
CausalMutation |
CLINVAR |
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
|
22140512 |
2011 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
|
20079887 |
2010 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
T |
0.800 |
CausalMutation |
CLINVAR |
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
|
19503744 |
2009 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
|
18407550 |
2008 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
rs397515624
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
|
18407550 |
2008 |
rs74315439
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
|
18407550 |
2008 |
rs74315439
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
rs74315441
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
18302245 |
2008 |
rs74315441
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
|
18407550 |
2008 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.
|
18085469 |
2007 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
|
17296897 |
2007 |
rs121912973
|
CRYAA;LOC107987300
|
CATARACT, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
17724170 |
2007 |