{{Rsnum
|rsid=281875376
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ZMPSTE24
|position=40292590
|Gene_s=ZMPSTE24
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000023550.1
|CLNALLE=1
|CLNDBN=Mandibuloacral dysplasia with type B lipodystrophy
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1837756:608612:ORPHA2457
|CLNHGVS=NC_000001.11:g.40292590G>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_005857.4:c.1349G>A; 606480.0009
|Disease=Mandibuloacral dysplasia with type B lipodystrophy
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=40292590
|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=281875376
|GENEINFO=ZMPSTE24:10269
|GENE_ID=10269
|GENE_NAME=ZMPSTE24
}}{{PMID Auto
|PMID=20814950
|Title=Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
|OA=1
}}