{{Rsnum
|rsid=121917882
|Chromosome=2
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SLC19A3
|position=227702251
|Gene_s=SLC19A3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=121917882
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=228566967
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SLC19A3:80704
|GENE_NAME=SLC19A3
|GENE_ID=80704
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.228566967C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606152.0001
|CLNSIG=5
|CLNCUI=C1843807
|CLNDBN=Basal ganglia disease, biotin-responsive
|Disease=Basal ganglia disease
|CLNACC=RCV000004824.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK169615:C1843807:607483:199348
}}