{{Rsnum
|rsid=72552729
|Chromosome=5
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SLC22A5
|position=132387047
|Gene_s=SLC22A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,C
|CHROM=5
|CLNACC=RCV000032092.1; RCV000022355.1
|CLNALLE=1; 2
|CLNDBN=Renal carnitine transport defect
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK84551:C0342788:212140:158:21764004
|CLNHGVS=NC_000005.9:g.131722739T>A; NC_000005.9:g.131722739T>C
|CLNSIG=5
|Disease=Renal carnitine transport defect
|FwdALT=A,C
|FwdREF=T
|GENEINFO=SLC22A5:6584
|GENE_ID=6584
|GENE_NAME=SLC22A5
|REF=T
|RSPOS=131722739
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=130
|rsid=72552729
}}

{{PMID Auto
|PMID=10612840
|Title=Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
}}

{{PMID Auto
|PMID=16652335
|Title=Pharmacological rescue of carnitine transport in primary carnitine deficiency.
}}

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