{{Rsnum
|rsid=121908093
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ZMPSTE24
|position=40285988
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ZMPSTE24
}}{{omim
|id=606480
|rsnum=121908093
|variant=0002
}}{{ClinVar
|rsid=121908093
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=40285988
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=ZMPSTE24:10269
|GENE_NAME=ZMPSTE24
|GENE_ID=10269
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40285988T>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_005857.4:c.1018T>C; 606480.0002
|CLNSIG=5
|CLNCUI=C1837756
|CLNDBN=Mandibuloacral dysplasia with type B lipodystrophy
|Disease=Mandibuloacral dysplasia with type B lipodystrophy
|CLNACC=RCV000004493.1
|Tags=PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1837756:608612:ORPHA2457
}}{{PMID Auto
|PMID=12913070
|Title=Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
}}