Variant: rs181255269 

    present in Gene: CDH23
    present in Chromosome: 10
    Position on Chromosome: 71694233
    Alleles of this Variant: C/T

rs181255269 in CDH23 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs181255269 in CDH23 gene and USHER SYNDROME, TYPE ID PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.