Variant: rs1003869920 

    present in Gene: USH2A
    present in Chromosome: 1
    Position on Chromosome: 215674335
    Alleles of this Variant: G/A

rs1003869920 in USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 28157192 2017 Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

rs1003869920 in USH2A gene and Retinitis Pigmentosa PMID 21593743 2011 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.