rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
STGD -affected individual AR682-03 was compound heterozygous for the mutation 2588G-->C and a complex allele, [W1408R; R1640W ].
11687513
2001
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763
2000
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
10612508
1999
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934
1997
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
10634594
2000
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
An analysis of allelic variation in the ABCA4 gene.
11328725
2001
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
9503029
1998
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
10746567
2000
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
11594993
2001
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
24097981
2013
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
18977788
2009
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
9973280
1999
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
9490294
1998
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
25082885
2014
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
A
0.800
GeneticVariation
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
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
11527935
2001
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
10711710
2000
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
11385708
2001
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034
1998
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034
1998
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
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
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
10206579
1999
rs61751404
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.800
GeneticVariation
UNIPROT
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
24444108
2014