present in Gene: CDH23
present in Chromosome: 10
Position on Chromosome: 71779316
Alleles of this Variant: G/A
rs111033270 in
CDH23 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 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.