Variant: rs111033258 

    present in Gene: CLRN1-AS1;CLRN1
    present in Chromosome: 3
    Position on Chromosome: 150972565
    Alleles of this Variant: A/C

rs111033258 in CLRN1-AS1;CLRN1 gene and Retinitis Pigmentosa PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

rs111033258 in CLRN1-AS1;CLRN1 gene and Usher Syndrome, Type III PMID 16028794 2005 Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

PMID 12145752 2002 Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

PMID 22787034 2012 The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.

PMID 15521980 2004 Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

PMID 26180195 2015 The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 19753315 2009 Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

PMID 18281613 2008 Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

PMID 11524702 2001 Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

PMID 19423712 2009 Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.

PMID 14569126 2003 Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

PMID 23304067 2012 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.