{{Rsnum
|rsid=386833994
|Chromosome=6
|Orientation=minus
|geno1=(-;-)
|geno2=(-;TCATCATTAAGAAAT)
|geno3=(TCATCATTAAGAAAT;TCATCATTAAGAAAT)
|Gene=SLC17A5
|position=73635385
|Gene_s=SLC17A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=6
|CLNACC=RCV000049971.1
|CLNALLE=1
|CLNDBN=Salla disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1470:C1096903:604369:834:87074006
|CLNHGVS=NC_000006.11:g.74345108_74345122delATTTCTTAATGATGA
|CLNSIG=4
|Disease=Salla disease
|FwdREF=TCATCATTAAGAAAT
|REF=GATTTCTTAATGATGA
|RSPOS=74345107
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833994
|GENEINFO=SLC17A5:26503
|GENE_ID=26503
|GENE_NAME=SLC17A5
}}{{PMID Auto
|PMID=12121352
|Title=An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
}}