Variant: rs121908347 

    present in Gene: CDH23;C10orf105
    present in Chromosome: 10
    Position on Chromosome: 71739772
    Alleles of this Variant: G/C

rs121908347 in CDH23;C10orf105 gene and USHER SYNDROME, TYPE ID 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.

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

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.