Variant: rs387906385 

    present in Gene: ABCA4
    present in Chromosome: 1
    Position on Chromosome: 94042877
    Alleles of this Variant: -/CA

rs387906385 in ABCA4 gene and BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs387906385 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.