{{Rsnum
|rsid=201933838
|Gene=MKS1
|Chromosome=17
|position=58214740
|Orientation=plus
|GMAF=0.0
|Gene_s=MKS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=T
|CAF=1; 0
|CHROM=17
|CLNACC=RCV000050037.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 1
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN077329:249000:564
|CLNHGVS=NC_000017.10:g.56292101C>T
|CLNSIG=4
|COMMON=0
|Disease=Meckel syndrome type 1
|FwdALT=T
|FwdREF=C
|GENEINFO=MKS1:54903
|GENE_ID=54903
|GENE_NAME=MKS1
|REF=C
|RSPOS=56292101
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000016110100
|WGT=0
|dbSNPBuildID=137
|rsid=201933838
}}{{PMID Auto
|PMID=17437276
|Title=Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
}}