{{Rsnum
|rsid=267606956
|Chromosome=19
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PNKP
|position=49862424
|Gene_s=PNKP
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=19
|CLNACC=RCV000005119.1
|CLNALLE=1
|CLNDBN=Early infantile epileptic encephalopathy 10
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3150667:613402:228418
|CLNHGVS=NC_000019.9:g.50365681C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605610.0001
|Disease=Early infantile epileptic encephalopathy 10
|FwdALT=A
|FwdREF=G
|GENEINFO=PNKP:11284
|GENE_ID=11284
|GENE_NAME=PNKP
|REF=C
|RSPOS=50365681
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606956
}}