{{Rsnum
|rsid=121912598
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=USH2A
|position=216364958
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608400
|rsnum=121912598
|variant=0004
}}{{ClinVar
|rsid=121912598
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=216364958
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000605000002110100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216364958A>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.779T>G; 608400.0004
|CLNSIG=5
|CLNCUI=C1848634
|CLNDBN=Usher syndrome, type 2A
|Disease=Usher syndrome
|CLNACC=RCV000002448.1
|Tags=RV;PM;NSN;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1341:C1848634:276901:ORPHA231178:ORPHA886
}}