{{Rsnum
|rsid=104894631
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PNPO
|position=47946780
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PNPO
}}{{omim
|id=603287
|rsnum=104894631
|variant=0003
}}{{ClinVar
|rsid=104894631
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=46024146
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PNPO:55163
|GENE_NAME=PNPO
|GENE_ID=55163
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.46024146T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603287.0003
|CLNSIG=5
|CLNCUI=C1864723
|CLNDBN=Pyridoxal 5'-phosphate-dependent epilepsy
|Disease=Pyridoxal 5'-phosphate-dependent epilepsy
|CLNACC=RCV000006898.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864723:610090:79096
}}