{{Rsnum
|rsid=74315295
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=CPT2
|position=53210822
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CPT2
}}{{omim
|id=600650
|rsnum=74315295
|variant=0007
}}{{ClinVar
|rsid=74315295
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=53210822
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=CPT2:1376
|GENE_NAME=CPT2
|GENE_ID=1376
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.53210822T>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000098.2:c.1148T>A; 600650.0007
|CLNSIG=5
|CLNCUI=C1833511; C1833508
|CLNDBN=Carnitine palmitoyltransferase II deficiency, infantile; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
|Disease=Carnitine palmitoyltransferase II deficiency; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY
|CLNACC=RCV000009517.1; RCV000009518.3
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1253:C1833511:600649:ORPHA228305; NBK1253:C1833508:255110:ORPHA157:ORPHA228302
}}