{{Rsnum
|rsid=121908095
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ZMPSTE24
|position=40272009
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ZMPSTE24
}}{{omim
|id=606480
|rsnum=121908095
|variant=0005
}}{{ClinVar
|rsid=121908095
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=40272009
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=ZMPSTE24:10269
|GENE_NAME=ZMPSTE24
|GENE_ID=10269
|WGT=1
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000001.11:g.40272009C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_005857.4:c.743C>T; 606480.0005
|CLNSIG=5
|CLNCUI=C1837756
|CLNDBN=Mandibuloacral dysplasia with type B lipodystrophy
|Disease=Mandibuloacral dysplasia with type B lipodystrophy
|CLNACC=RCV000004496.1
|Tags=PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1837756:608612:ORPHA2457
}}{{PMID Auto
|PMID=18435794
|Title=Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
|OA=1
}}

{{PMID Auto
|PMID=20814950
|Title=Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
|OA=1
}}