{{Rsnum
|rsid=267606958
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PNPO
|position=47945963
|Gene_s=PNPO
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=17
|CLNACC=RCV000006899.1
|CLNALLE=1
|CLNDBN=Pyridoxal 5'-phosphate-dependent epilepsy
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864723:610090:79096
|CLNHGVS=NC_000017.10:g.46023329C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603287.0004
|Disease=Pyridoxal 5'-phosphate-dependent epilepsy
|FwdALT=T
|FwdREF=C
|GENEINFO=PNPO:55163
|GENE_ID=55163
|GENE_NAME=PNPO
|REF=C
|RSPOS=46023329
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606958
}}