{{Rsnum
|rsid=121917745
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RPE65
|position=68429835
|Gene_s=RPE65
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=180069
|rsnum=121917745
|variant=0008
}}{{ClinVar
|rsid=121917745
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=68429835
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000a05000002110100
|GENEINFO=RPE65:6121
|GENE_NAME=RPE65
|GENE_ID=6121
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.68429835G>A
|CLNSRC=ClinVar; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000329.2:c.1543C>T; 180069.0008; RISN-RPE65:c.1543C>T
|CLNSIG=5
|CLNCUI=C1867316; C1859844
|CLNDBN=Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
|Disease=Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
|CLNACC=RCV000013999.22; RCV000014000.22; RCV000085176.1
|Tags=RV;PM;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1417:C3151086:613794:ORPHA791; NBK1298:C1859844:204100:ORPHA65
}}