{{Rsnum
|rsid=2229738
|Gene=CPT1A
|Chromosome=11
|position=68794860
|Orientation=minus
|GMAF=0.03627
|Gene_s=CPT1A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 17.0 | 83.0
| HCB | 0.0 | 0.8 | 99.2
| JPT | 0.0 | 1.8 | 98.2
| YRI | 0.0 | 0.7 | 99.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.8 | 99.2
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 2.7 | 97.3
| MEX | 0.0 | 8.6 | 91.4
| MKK | 0.0 | 0.0 | 0.0
| TSI | 1.0 | 11.8 | 87.3
| HapMapRevision=28
}}{{ClinVar
|rsid=2229738
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=68562328
|CHROM=11
|GMAF=0.0362
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050368000000150517110100
|GENEINFO=CPT1A:1374
|GENE_NAME=CPT1A
|GENE_ID=1374
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000011.9:g.68562328C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=255120
|CLNDBN=Carnitine palmitoyltransferase I deficiency
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9637; 0.03627
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1527:C0342789:255120:156:238001003
|COMMON=1
|Disease=Carnitine palmitoyltransferase I deficiency
|CLNACC=RCV000055868.1
|CLNSRC=GeneReviews
|CLNSRCID=NBK1527
}}{{PMID Auto
|PMID=11441142
|Title=Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
}}{{GET Evidence
|gene=CPT1A
|aa_change=Ala275Thr
|aa_change_short=A275T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2229738
|overall_frequency_n=597
|overall_frequency_d=10758
|overall_frequency=0.0554936
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=10
}}