Variant: rs1057516342 

    present in Gene: PCDH15
    present in Chromosome: 10
    Position on Chromosome: 53995732
    Alleles of this Variant: G/A;C

rs1057516342 in PCDH15 gene and Usher Syndrome, Type IF PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.