{{Rsnum
|rsid=397514598
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PNPT1
|position=55667007
|Gene_s=PNPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=2
|CLNACC=RCV000033022.1
|CLNALLE=1
|CLNDBN=Combined oxidative phosphorylation deficiency 13
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN160614:614932
|CLNHGVS=NC_000002.11:g.55894142T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=610316.0001
|Disease=Combined oxidative phosphorylation deficiency 13
|FwdALT=G
|FwdREF=A
|GENEINFO=PNPT1:87178
|GENE_ID=87178
|GENE_NAME=PNPT1
|REF=T
|RSPOS=55894142
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514598
}}