Variant: rs121908348 

    present in Gene: CDH23;MIR7152
    present in Chromosome: 10
    Position on Chromosome: 71791215
    Alleles of this Variant: G/A

rs121908348 in CDH23;MIR7152 gene and Deafness, Autosomal Recessive 12 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 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

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

PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.