{{Rsnum
|rsid = 28936374
|Gene = CPT1A
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=11
|position=68760241
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CPT1A
}}{{omim
|desc=CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
|id=600528
|rsnum=28936374
|variant=0009
}}{{ClinVar
|rsid=28936374
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=68527709
|CHROM=11
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=CPT1A:1374
|GENE_NAME=CPT1A
|GENE_ID=1374
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.68527709C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1527; 600528.0009
|CLNSIG=5
|CLNCUI=C0342789
|CLNDBN=Carnitine palmitoyltransferase I deficiency
|Disease=Carnitine palmitoyltransferase I deficiency
|CLNACC=RCV000009636.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1527:C0342789:255120:156:238001003
}}{{PMID Auto
|PMID=9048718
|Title=Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
|OA=1
}}

{{PMID Auto
|PMID=14517221
|Title=Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
}}