Variant: rs28938473 

    present in Gene: ABCA4
    present in Chromosome: 1
    Position on Chromosome: 94007731
    Alleles of this Variant: G/A

rs28938473 in ABCA4 gene and Macular Degeneration, Age-Related, 2 PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 19028736 2009 Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

rs28938473 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

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

PMID 23953153 2013 Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

PMID 11379881 2001 Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PMID 28118664 2017 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.

PMID 22264887 2012 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

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

rs28938473 in ABCA4 gene and Vitreoretinal degeneration PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.