{{Rsnum
|rsid=386834152
|Chromosome=12
|position=88114488
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CEP290
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=A
|CHROM=12
|CLNACC=RCV000050146.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 4
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970161:611134:564
|CLNHGVS=NC_000012.11:g.88508265G>A
|CLNSIG=4
|Disease=Meckel syndrome type 4
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=88508265
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834152
|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
}}

{{PMID Auto
|PMID=19764032
|Title=Expanding CEP290 mutational spectrum in ciliopathies.
}}