{{Rsnum
|rsid=137852832
|Chromosome=12
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=CEP290
|position=88077263
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=610142
|variant=0001
|rsnum=137852832
}}{{ClinVar
|rsid=137852832
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=88471040
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=CEP290:80184
|GENE_NAME=CEP290
|GENE_ID=80184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.88471040C>A
|CLNSRC=OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=610142.0001; RISN-CEP290:c.5668G>T
|CLNSIG=5
|CLNCUI=C1857780
|CLNDBN=Joubert syndrome 5; not provided
|Disease=Joubert syndrome 5; not provided
|CLNACC=RCV000001396.1; RCV000086298.1
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1325:C1857780:610188:2318
}}