{{Rsnum
|rsid=104894276
|Gene=PTS
|Chromosome=11
|position=112233178
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PTS
}}{{omim
|id=612719
|rsnum=104894276
|variant=0005
}}{{ClinVar
|rsid=104894276
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=112103901
|CHROM=11
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=PTS:5805
|GENE_NAME=PTS
|GENE_ID=5805
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000011.9:g.112103901C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612719.0005
|CLNSIG=5
|CLNCUI=C0878676
|CLNDBN=6-pyruvoyl-tetrahydropterin synthase deficiency
|Disease=6-pyruvoyl-tetrahydropterin synthase deficiency
|CLNACC=RCV000000509.1
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C0878676:261640:13:238583
|COMMON=0
}}