{{Rsnum
|rsid=80338794
|Gene=SLC17A5
|Chromosome=6
|position=73644583
|Orientation=minus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC17A5
}}{{omim
|id=604322
|rsnum=80338794
|variant=0001
}}{{ClinVar
|rsid=80338794
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=74354306
|CHROM=6
|GMAF=0.0009
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=SLC17A5:26503
|GENE_NAME=SLC17A5
|GENE_ID=26503
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.74354306G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1470; 604322.0001
|CLNSIG=5
|CLNCUI=C1096903; C1096903
|CLNDBN=Salla disease
|Disease=Salla disease
|CLNACC=RCV000005967.1
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1470:C1096903:604369:834:87074006
|COMMON=1
}}{{PMID Auto
|PMID=10581036
|Title=A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
}}

{{PMID Auto
|PMID=10947946
|Title=The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
|OA=1
}}

{{PMID Auto
|PMID=11992753
|Title=Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
}}

{{PMID Auto
|PMID=12794688
|Title=Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
}}

{{PMID Auto
|PMID=16170568
|Title=Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
}}