Variant: rs1553268563 

    present in Gene: USH2A
    present in Chromosome: 1
    Position on Chromosome: 215845823
    Alleles of this Variant: C/-

rs1553268563 in USH2A gene and Multiple congenital anomalies PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 21234346 2011 An update on the genetics of usher syndrome.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

rs1553268563 in USH2A gene and Overgrowth PMID 21234346 2011 An update on the genetics of usher syndrome.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.