{{Rsnum
|rsid=111033334
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=USH2A
|position=216247185
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=USH2A
}}{{omim
|id=608400
|rsnum=111033334
|variant=0011
}}{{ClinVar
|rsid=111033334
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=216247185
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000605000002110100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216247185G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.2209C>T; 608400.0011
|CLNSIG=5
|CLNCUI=C1848634; C3151138
|CLNDBN=Usher syndrome, type 2A; Retinitis pigmentosa 39; Retinitis pigmentosa-deafness syndrome
|Disease=Usher syndrome; Retinitis pigmentosa 39; Retinitis pigmentosa-deafness syndrome
|CLNACC=RCV000002456.1; RCV000002457.1; RCV000041809.1
|Tags=RV;PM;PMC;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1341:C1848634:276901:ORPHA231178:ORPHA886; NBK1417:C3151138:613809:ORPHA791; C0271097:500004:ORPHA231183:ORPHA886:57838006
}}{{PMID|17296898}} Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

{{PMID|18452394}} Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.