{{Rsnum
|rsid=267606719
|position=88077227
|Chromosome=12
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=CEP290
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000001410.1
|CLNALLE=1
|CLNDBN=Bardet-Biedl syndrome 14
|CLNDSDB=GeneReviews:MedGen
|CLNDSDBID=NBK1363:C2673874
|CLNHGVS=NC_000012.11:g.88471004C>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=610142.0013
|Disease=Bardet-Biedl syndrome 14
|FwdALT=T
|FwdREF=G
|GENEINFO=CEP290:80184
|GENE_ID=80184
|GENE_NAME=CEP290
|REF=C
|RSPOS=88471004
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606719
}}