{{Rsnum
|rsid=137852636
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=HMGCS2
|position=119764211
|Gene_s=HMGCS2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=600234
|variant=0001
|rsnum=137852636
}}{{ClinVar
|rsid=137852636
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=119764211
|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.119764211A>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001166107.1:c.520T>C; 600234.0001
|CLNSIG=5
|CLNCUI=C2751532
|CLNDBN=mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|Disease=mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|CLNACC=RCV000009839.1
|Tags=RV;PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751532:605911:ORPHA35701
}}