{{Rsnum
|rsid=386834053
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=MKS1
|position=58210980
|Gene_s=MKS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=17
|CLNACC=RCV000050040.1
|CLNALLE=1
|CLNDBN=Meckel syndrome type 1
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN077329:249000:564
|CLNHGVS=NC_000017.10:g.56288341C>T
|CLNSIG=4
|Disease=Meckel syndrome type 1
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=56288341
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834053
|GENEINFO=MKS1:54903
|GENE_ID=54903
|GENE_NAME=MKS1
}}{{PMID Auto
|PMID=17397051
|Title=Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
}}