{{Rsnum
|rsid=386834052
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=MKS1
|position=58219149
|Gene_s=MKS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=17
|CLNACC=RCV000050039.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 1
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN077329:249000:564
|CLNHGVS=NC_000017.10:g.56296510A>G
|CLNSIG=4
|Disease=Meckel syndrome type 1
|FwdALT=C
|FwdREF=T
|REF=A
|RSPOS=56296510
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834052
|GENEINFO=MKS1:54903
|GENE_ID=54903
|GENE_NAME=MKS1
}}{{PMID Auto
|PMID=16415886
|Title=MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
}}