{{Rsnum
|rsid=386834150
|Chromosome=12
|position=88140954
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=CEP290
|Gene_s=CEP290,TMTC3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000050144.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 4
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970161:611134:564
|CLNHGVS=NC_000012.11:g.88534731A>T
|CLNSIG=4
|Disease=Meckel syndrome type 4
|FwdALT=A
|FwdREF=T
|REF=A
|RSPOS=88534731
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834150
|GENEINFO=CEP290:80184; TMTC3:160418
|GENE_ID=80184; 160418
|GENE_NAME=CEP290; TMTC3
}}{{PMID Auto
|PMID=17564974
|Title=Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
|OA=1
}}