{{Rsnum
|rsid=80338903
|Chromosome=1
|Orientation=minus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=USH2A
|position=216247095
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338903
|Reversed=1
|FwdREF=G
|FwdALT=
|REF=TC
|ALT=T
|RSPOS=216247094
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168001205000002100200
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216247095delC
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;NSF;REF;ASP;OTHERKG;LSD
|CLNACC=RCV000032524.2; RCV000041812.1
|CLNDBN=Retinitis pigmentosa; Retinitis pigmentosa-deafness syndrome
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1341:NBK1417:C0035334:268000:ORPHA791:28835009; C0271097:500004:ORPHA231183:ORPHA886:57838006
|CLNSRC=ClinVar; GeneReviews
|CLNSRCID=NM_206933.2:c.2299delG; NBK1341
|Disease=Retinitis pigmentosa; Retinitis pigmentosa-deafness syndrome
}}{{PMID Auto
|PMID=10729113
|Title=Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|OA=1
}}

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

{{PMID Auto
|PMID=11402
|Title=Urban freestanding specialty hospitals under pressure, face uncertain future.
}}

{{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=15025721
|Title=Mutational spectrum in Usher syndrome type II.
}}