Variant: rs528919874 

    present in Gene: PHF3;EYS
    present in Chromosome: 6
    Position on Chromosome: 63721376
    Alleles of this Variant: CTGCATGT/-

rs528919874 in PHF3;EYS gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs528919874 in PHF3;EYS gene and Retinitis Pigmentosa 25 PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.