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.