{{Rsnum
|rsid=397518046
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=USH2A
|position=215838058
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000041947.1
|CLNALLE=1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|CLNHGVS=NC_000001.11:g.215838058G>A
|CLNSIG=5
|Disease=Retinitis pigmentosa-deafness syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=USH2A:7399
|GENE_ID=7399
|GENE_NAME=USH2A
|REF=G
|RSPOS=215838058
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000605000002110100
|WGT=1
|dbSNPBuildID=138
|rsid=397518046
|CLNORIGIN=1
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.9304C>T
}}