{{Rsnum
|rsid=111033273
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=USH2A
|position=216321921
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033273
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=216321921
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000a05000002100100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216321921A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;NSM;REF;ASP;OTHERKG;LSD
|CLNACC=RCV000041794.1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|Disease=Retinitis pigmentosa-deafness syndrome
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.1606T>C
}}{{PMID|10909849}} Identification of novel USH2A mutations: implications for the structure of USH2A protein.

{{PMID|15043528}} Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.