rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Loss of peripapillary sparing in non-group I Stargardt disease.
|
20696155 |
2010 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade.
|
19578016 |
2009 |
rs1800553
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
rs76157638
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation.
|
15019334 |
2004 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
rs76157638
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs760549861
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
|
29422768 |
2018 |
rs760549861
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
|
28130426 |
2017 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
|
26593885 |
2016 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
|
25712131 |
2015 |