{{Rsnum
|rsid=104894275
|Chromosome=11
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PTS
|position=112228665
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PTS
}}{{omim
|id=612719
|rsnum=104894275
|variant=0004
}}{{ClinVar
|rsid=104894275
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=112099388
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PTS:5805
|GENE_NAME=PTS
|GENE_ID=5805
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.112099388A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612719.0004
|CLNSIG=5
|CLNCUI=C0878676
|CLNDBN=6-pyruvoyl-tetrahydropterin synthase deficiency
|Disease=6-pyruvoyl-tetrahydropterin synthase deficiency
|CLNACC=RCV000000508.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C0878676:261640:13:238583
}}