{{Rsnum
|rsid=386834158
|Chromosome=12
|position=88077790
|Orientation=minus
|geno1=(-;-)
|geno2=(-;A)
|geno3=(A;A)
|Gene=CEP290
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000050152.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 4
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970161:611134:564
|CLNHGVS=NC_000012.11:g.88471567delT
|CLNSIG=4
|Disease=Meckel syndrome type 4
|FwdREF=A
|REF=CT
|RSPOS=88471566
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386834158
|GENEINFO=CEP290:80184
|GENE_ID=80184
|GENE_NAME=CEP290
}}{{PMID Auto
|PMID=17705300
|Title=Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
}}

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