{{Rsnum
|rsid=267607181
|Chromosome=1
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ZMPSTE24
|position=40271981
|Gene_s=ZMPSTE24
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000004497.1
|CLNALLE=1
|CLNDBN=Lethal tight skin contracture syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0406585:275210:ORPHA1662:400128006
|CLNHGVS=NC_000001.11:g.40271981G>T
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_005857.4:c.715G>T; 606480.0006
|Disease=Lethal tight skin contracture syndrome
|FwdALT=T
|FwdREF=G
|GENEINFO=ZMPSTE24:10269
|GENE_ID=10269
|GENE_NAME=ZMPSTE24
|REF=G
|RSPOS=40271981
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000605000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=267607181
}}{{PMID Auto
|PMID=19504603
|Title=A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
}}