{{Rsnum
|rsid=111033263
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=USH2A
|position=215799066
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033263
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=215799066
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000a05000002100100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.215799066A>G
|CLNORIGIN=1
|CLNSIG=4
|Tags=RV;PM;PMC;NSM;REF;ASP;OTHERKG;LSD
|CLNACC=RCV000041960.1
|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.9799T>C
}}{{PMID|17085681|OA=1
}} Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.