Variant: rs727503715 

    present in Gene: USH2A
    present in Chromosome: 1
    Position on Chromosome: 215674537
    Alleles of this Variant: T/-

rs727503715 in USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

rs727503715 in USH2A gene and Retinal Dystrophies PMID 17405132 2007 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.