Variant: rs80338903 

    present in Gene: USH2A
    present in Chromosome: 1
    Position on Chromosome: 216247095
    Alleles of this Variant: C/-

rs80338903 in USH2A gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs80338903 in USH2A gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs80338903 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 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

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

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

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.

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

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

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

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

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

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

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

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

rs80338903 in USH2A gene and Night blindness, congenital stationary PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs80338903 in USH2A gene and Overgrowth PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

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

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

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

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

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

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

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

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

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

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

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

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

rs80338903 in USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

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

PMID 24607488 2014 The effect of the common c.2299delG mutation in USH2A on RNA splicing.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

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

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

rs80338903 in USH2A gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs80338903 in USH2A gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

rs80338903 in USH2A gene and USHER SYNDROME, TYPE IIA PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 24607488 2014 The effect of the common c.2299delG mutation in USH2A on RNA splicing.

rs80338903 in USH2A gene and Usher Syndrome PMID 15025721 2004 Mutational spectrum in Usher syndrome type II.

PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.

PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 9624053 1998 Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 14970843 2004 Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

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

PMID 11402400 2001 A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.