Variant: rs397515359 

    present in Gene: USH1C
    present in Chromosome: 11
    Position on Chromosome: 17531408
    Alleles of this Variant: -/G

rs397515359 in USH1C gene and Deafness, Autosomal Recessive 18 PMID 11139240 2001 Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

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

rs397515359 in USH1C gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397515359 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.

rs397515359 in USH1C gene and Usher Syndrome, Type I PMID 12630964 2003 USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 10973247 2000 A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

PMID 12107438 2002 Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

PMID 12702164 2003 The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

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

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