{{Rsnum
|rsid=1799821
|Gene=CPT2
|Chromosome=1
|position=53210776
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4995
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CPT2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 30.1 | 49.6 | 20.4
| HCB | 48.9 | 44.5 | 6.6
| JPT | 52.2 | 40.7 | 7.1
| YRI | 4.1 | 40.8 | 55.1
| ASW | 10.5 | 45.6 | 43.9
| CHB | 48.9 | 44.5 | 6.6
| CHD | 55.6 | 38.9 | 5.6
| GIH | 3.0 | 33.7 | 63.4
| LWK | 6.4 | 50.9 | 42.7
| MEX | 19.0 | 48.3 | 32.8
| MKK | 17.3 | 53.8 | 28.8
| TSI | 20.6 | 55.9 | 23.5
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1799821
|allele=A
|frequency=0.442
|uid=1103675093987
|type=heterozygous_SNP
|hugo=CPT2
|ensembl gene=ENSG00000157184
|ensembl transcript=ENST00000371486
|sift=TOLERATED
|disease=Defects in CPT2 are the cause of lethal neonathal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) (MIM:608836); a lethal neonathal form of CPT-II deficiency. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.
}}

{{ neighbor
| rsid = 28936674
| distance = 582
}}

{{PMID Auto
|PMID=15986317
|Title=Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
|OA=1
}}

{{GET Evidence
|gene=CPT2
|aa_change=Val368Ile
|aa_change_short=V368I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1799821
|overall_frequency_n=4902
|overall_frequency_d=10758
|overall_frequency=0.455661
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=9
}}

{{PMID Auto
|PMID=22809552
|Title=A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.
}}

{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000023026.1; RCV000078116.1; RCV000124601.1
|CLNALLE=1
|CLNDBN=Encephalopathy, acute, infection-induced, 4, susceptibility to; AllHighlyPenetrant; not provided
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=C3280160:614212:ORPHA263524; CN169374
|CLNHGVS=NC_000001.11:g.53210776G>A
|CLNORIGIN=1
|CLNSIG=255
|CLNSRC=ClinVar; Emory University; GeneDx; OMIM Allelic Variant
|CLNSRCID=NM_000098.2:c.1102G>A; 278; 415624; 600650.0018
|Disease=Encephalopathy; AllHighlyPenetrant; not provided
|FwdALT=A
|FwdREF=G
|GENEINFO=CPT2:1376
|GENE_ID=1376
|GENE_NAME=CPT2
|REF=G
|RSPOS=53210776
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3
|VC=SNV
|VP=0x050328000a0517051f000101
|WGT=1
|dbSNPBuildID=89
|rsid=1799821
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}