|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
|
28118664 |
2017 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
|
25921964 |
2015 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[The molecular genetic and clinical findings in two probands with Stargardt disease].
|
25640233 |
2014 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
|
rs1800553
|
|
|
0.830 |
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
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The G1961E mutation was more frequent in the patients without extensive loss of IS/OS junction (P = 0.01) confirming its association with a milder STGD phenotype.
|
22661472 |
2012 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.
|
21786275 |
2012 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
|
rs1800553
|
|
|
0.830 |
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 |
0.830 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
|
rs1800553
|
|
T |
0.830 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1800553
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
|
|
|