{{Rsnum
|rsid=386834148
|Chromosome=12
|position=88121136
|Orientation=minus
|geno1=(-;-)
|geno2=(-;AT)
|geno3=(AT;AT)
|Gene=CEP290
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000050142.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 4
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970161:611134:564
|CLNHGVS=NC_000012.11:g.88514913_88514914delAT
|CLNSIG=4
|Disease=Meckel syndrome type 4
|FwdREF=AT
|REF=CAT
|RSPOS=88514912
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386834148
|GENEINFO=CEP290:80184
|GENE_ID=80184
|GENE_NAME=CEP290
}}{{PMID Auto
|PMID=17564974
|Title=Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
|OA=1
}}

{{PMID Auto
|PMID=19466712
|Title=Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|OA=1
}}