{{Rsnum
|rsid=61742739
|Gene=SLC5A2
|Chromosome=16
|position=31490477
|Orientation=plus
|GMAF=0.003673
|Gene_s=C16orf58,SLC5A2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=182381
|rsnum=61742739
|variant=0002
}}

{{ClinVar
|rsid=61742739
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=31501798
|CHROM=16
|GMAF=0.0041
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050060000000040516110100
|GENEINFO=SLC5A2:6524; C16orf58:64755
|GENE_NAME=SLC5A2; C16orf58
|GENE_ID=6524; 64755
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.31501798A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=182381.0002
|CLNSIG=5
|CLNCUI=C0017980
|CLNDBN=Familial renal glucosuria
|Disease=Familial renal glucosuria
|CLNACC=RCV000013768.23
|Tags=PM;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0017980:233100:69076:226309007
|COMMON=1
}}

{{GET Evidence
|gene=SLC5A2
|aa_change=Asn654Ser
|aa_change_short=N654S
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs61742739
|overall_frequency_n=76
|overall_frequency_d=10758
|overall_frequency=0.00706451
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.776
|genetests_testable=Y
|nblosum100=0
|max_or_disease_name=Renal Glucosuria
|max_or_case_pos=4
|max_or_case_neg=76
|max_or_control_pos=2
|max_or_control_neg=336
|max_or_or=8.842
|autoscore=4
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}