{{Rsnum
|rsid=72552731
|Chromosome=5
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SLC22A5
|position=132390798
|Gene_s=SLC22A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=5
|CLNACC=RCV000022363.1
|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.131726490T>G
|CLNSIG=5
|Disease=Renal carnitine transport defect
|FwdALT=G
|FwdREF=T
|GENEINFO=SLC22A5:6584
|GENE_ID=6584
|GENE_NAME=SLC22A5
|REF=T
|RSPOS=131726490
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=130
|rsid=72552731
}}{{PMID Auto
|PMID=12204000
|Title=A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
}}