{{Rsnum
|rsid=121912600
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=USH2A
|position=216324240
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608400
|rsnum=121912600
|variant=0009
}}{{ClinVar
|rsid=121912600
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=216324240
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216324240C>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.1256G>T; 608400.0009
|CLNSIG=5
|CLNCUI=C1848634
|CLNDBN=Usher syndrome, type 2A; Retinitis pigmentosa-deafness syndrome
|Disease=Usher syndrome; Retinitis pigmentosa-deafness syndrome
|CLNACC=RCV000002453.1; RCV000041724.1
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1341:C1848634:276901:ORPHA231178:ORPHA886; C0271097:500004:ORPHA231183:ORPHA886:57838006
}}