Variant: rs151045328 

    present in Gene: USH1C
    present in Chromosome: 11
    Position on Chromosome: 17531431
    Alleles of this Variant: C/T

rs151045328 in USH1C gene and Deafness, Autosomal Recessive 18 PMID 12630964 2003 USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

PMID 17407589 2007 Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

PMID 10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

PMID 15578223 2005 The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.

PMID 11139240 2001 Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

rs151045328 in USH1C gene and Usher Syndrome PMID 10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

rs151045328 in USH1C gene and Usher Syndrome, Type I PMID 11810303 2002 The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.

PMID 10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

PMID 15578223 2005 The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.