Variant: rs61748558 

    present in Gene: ABCA4
    present in Chromosome: 1
    Position on Chromosome: 94063224
    Alleles of this Variant: C/T

rs61748558 in ABCA4 gene and RETINITIS PIGMENTOSA 19 PMID 11726554 2001 Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

rs61748558 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 10634594 2000 An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

PMID 10090887 1999 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.

PMID 11594993 2001 Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PMID 10206579 1999 Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

PMID 10612508 1999 A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PMID 10711710 2000 New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PMID 11328725 2001 An analysis of allelic variation in the ABCA4 gene.

PMID 11385708 2001 Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

PMID 11527935 2001 Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PMID 18977788 2009 Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PMID 10746567 2000 Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PMID 9503029 1998 Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

PMID 9781034 1998 Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 9490294 1998 Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.