{{Rsnum
|rsid=137852700
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PPT1
|position=40089495
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=600722
|variant=0006
|rsnum=137852700
}}{{ClinVar
|rsid=137852700
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=40089495
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000b05040002110110
|GENEINFO=PPT1:5538
|GENE_NAME=PPT1
|GENE_ID=5538
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40089495G>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000310.3:c.451C>T; NBK1428; 600722.0006
|CLNSIG=5
|CLNCUI=C1850451
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|Disease=Ceroid lipofuscinosis neuronal 1
|CLNACC=RCV000009455.2
|Tags=RV;PM;S3D;NSM;REF;SYN;ASP;VLD;OTHERKG;LSD;OM;NOC
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
}}