Variant: rs886039450

present in Gene: LOC105372918;USH2A present in Chromosome: 1 Position on Chromosome: 216207401 Alleles of this Variant: GT/-

rs886039450 in LOC105372918;USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American 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.

rs886039450 in LOC105372918;USH2A gene and USHER SYNDROME, TYPE IIA PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American 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.

rs886039450 in LOC105372918;USH2A gene and Usher Syndrome PMID 23924366 2013 Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

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

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 19881469 2009 Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 27624628 2016 Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.