Variant: rs137853124

present in Gene: RPGRIP1 present in Chromosome: 14 Position on Chromosome: 21294785 Alleles of this Variant: G/A

rs137853124 in RPGRIP1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.