{{Rsnum
|rsid=80338902
|Gene=USH2A
|Chromosome=1
|position=216247118
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=USH2A
}}{{omim
|id=608400
|rsnum=80338902
|variant=0006
}}{{ClinVar
|rsid=80338902
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=216247118
|CHROM=1
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000a05040016110110
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216247118C>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.2276G>T; NBK1341; 608400.0006
|CLNSIG=5
|CLNCUI=C3151138
|CLNDBN=Retinitis pigmentosa 39; Retinitis pigmentosa; Retinitis pigmentosa-deafness syndrome
|Disease=Retinitis pigmentosa 39; Retinitis pigmentosa; Retinitis pigmentosa-deafness syndrome
|CLNACC=RCV000002450.1; RCV000032523.2; RCV000041811.1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1417:C3151138:613809:ORPHA791; NBK1341:NBK1417:C0035334:268000:ORPHA791:28835009; C0271097:500004:ORPHA231183:ORPHA886:57838006
|COMMON=0
}}{{PMID Auto
|PMID=10775529
|Title=Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
|OA=1
}}

{{PMID Auto
|PMID=12427073
|Title=Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
}}

{{PMID Auto
|PMID=10775
|Title=[Does anesthesia have an immunosuppressive effect?].
}}

{{PMID Auto
|PMID=10909849
|Title=Identification of novel USH2A mutations: implications for the structure of USH2A protein.
}}

{{PMID Auto
|PMID=12112664
|Title=Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
}}

{{PMID Auto
|PMID=14970843
|Title=Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
}}

{{PMID Auto
|PMID=15325563
|Title=Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
}}

{{PMID Auto
|PMID=16098008
|Title=Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
}}