{{Rsnum
|rsid=80338904
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=USH2A
|position=215671085
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=USH2A
}}{{omim
|id=608400
|rsnum=80338904
|variant=0012
}}{{ClinVar
|rsid=80338904
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=215671085
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.215671085T>C
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.14020A>G; NBK1341; 608400.0012
|CLNSIG=5
|CLNCUI=C3151138
|CLNDBN=Retinitis pigmentosa 39; Retinitis pigmentosa
|Disease=Retinitis pigmentosa 39; Retinitis pigmentosa
|CLNACC=RCV000002458.1; RCV000032522.2
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1417:C3151138:613809:ORPHA791; NBK1341:NBK1417:C0035334:268000:ORPHA791:28835009
}}{{PMID Auto
|PMID=17296898
|Title=Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
}}