{{Rsnum
|rsid=386834047
|Chromosome=17
|Orientation=minus
|geno1=(-;-)
|geno2=(-;CT)
|geno3=(CT;CT)
|Gene=MKS1
|position=58216112
|Gene_s=MKS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=17
|CLNACC=RCV000050033.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 1
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN077329:249000:564
|CLNHGVS=NC_000017.10:g.56293473_56293474delAG
|CLNSIG=4
|Disease=Meckel syndrome type 1
|FwdREF=CT
|REF=CAG
|RSPOS=56293472
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386834047
|GENEINFO=MKS1:54903
|GENE_ID=54903
|GENE_NAME=MKS1
}}{{PMID Auto
|PMID=19466712
|Title=Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|OA=1
}}