{{Rsnum
|rsid=72552730
|Chromosome=5
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SLC22A5
|position=132387102
|Gene_s=SLC22A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=5
|CLNACC=RCV000022358.1
|CLNALLE=1
|CLNDBN=Renal carnitine transport defect
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK84551:C0342788:212140:158:21764004
|CLNHGVS=NC_000005.9:g.131722794C>A
|CLNSIG=5
|Disease=Renal carnitine transport defect
|FwdALT=A
|FwdREF=C
|GENEINFO=SLC22A5:6584
|GENE_ID=6584
|GENE_NAME=SLC22A5
|REF=C
|RSPOS=131722794
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=130
|rsid=72552730
}}

{{PMID Auto
|PMID=11058897
|Title=Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}