{{Rsnum
|rsid=80338739
|Chromosome=X
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CTT)
|geno3=(CTT;CTT)
|Gene=SLC6A8
|position=153690433
|Gene_s=SLC6A8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338739
|Reversed=0
|FwdREF=CTT
|FwdALT=
|REF=TCTT
|ALT=T
|RSPOS=152955884
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=SLC6A8:6535
|GENE_NAME=SLC6A8
|GENE_ID=6535
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.152955888_152955890delCTT
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK3794
|CLNSIG=5
|CLNCUI=C1845862
|CLNDBN=Creatine deficiency, X-linked
|Disease=Creatine deficiency
|CLNACC=RCV000020635.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3794:C1845862:300352:52503
}}{{PMID Auto
|PMID=17465020
|Title=Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
}}