{{Rsnum
|rsid=121908094
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ZMPSTE24
|position=40258392
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ZMPSTE24
}}{{omim
|id=606480
|rsnum=121908094
|variant=0004
}}{{ClinVar
|rsid=121908094
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=40258392
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000605000002110100
|GENEINFO=ZMPSTE24:10269
|GENE_NAME=ZMPSTE24
|GENE_ID=10269
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40258392C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_005857.4:c.121C>T; 606480.0004
|CLNSIG=5
|CLNCUI=C1837756
|CLNDBN=Mandibuloacral dysplasia with type B lipodystrophy
|Disease=Mandibuloacral dysplasia with type B lipodystrophy
|CLNACC=RCV000004495.1
|Tags=PM;PMC;SLO;NSN;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
}}