{{Rsnum
|rsid=80338795
|Gene=SLC17A5
|Chromosome=6
|position=73641810
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC17A5
}}{{omim
|id=604322
|rsnum=80338795
|variant=0009
}}{{ClinVar
|rsid=80338795
|Reversed=1
|FwdREF=A
|FwdALT=G,T
|REF=T
|ALT=A,C
|RSPOS=74351533
|CHROM=6
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=SLC17A5:26503
|GENE_NAME=SLC17A5
|GENE_ID=26503
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000006.11:g.74351533T>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1470; 604322.0009
|CLNSIG=5
|CLNCUI=C1096903
|CLNDBN=Salla disease
|Disease=Salla disease
|CLNACC=RCV000020682.1
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1470:C1096903:604369:834:87074006
|COMMON=0
}}{{PMID Auto
|PMID=16170568
|Title=Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
}}