Variant: rs111033260 

    present in Gene: PCDH15
    present in Chromosome: 10
    Position on Chromosome: 54317414
    Alleles of this Variant: G/A;T

rs111033260 in PCDH15 gene and Deafness, Autosomal Recessive 23 PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 24105371 2014 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

rs111033260 in PCDH15 gene and USHER SYNDROME, TYPE ID PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs111033260 in PCDH15 gene and Usher Syndrome, Type I PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

rs111033260 in PCDH15 gene and Usher Syndrome, Type IF PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 15028842 2004 The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.