{{Rsnum
|rsid = 28937320
|Gene = HMGCS2
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=1
|position=119764571
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HMGCS2
}}{{omim
|desc=HMG-CoA SYNTHASE DEFICIENCY
|id=600234
|rsnum=28937320
|variant=0005
}}{{ClinVar
|rsid=28937320
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=119764571
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=HMGCS2:3158
|GENE_NAME=HMGCS2
|GENE_ID=3158
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.119764571C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001166107.1:c.160G>A; 600234.0005
|CLNSIG=5
|CLNCUI=C2751532
|CLNDBN=mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|Disease=mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|CLNACC=RCV000009843.1
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751532:605911:ORPHA35701
}}