{{Rsnum
|rsid=137852697
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PPT1
|position=40092171
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=600722
|variant=0003
|rsnum=137852697
}}{{ClinVar
|rsid=137852697
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=40092171
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260080a05000002110100
|GENEINFO=PPT1:5538
|GENE_NAME=PPT1
|GENE_ID=5538
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40092171T>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000310.3:c.236A>G; NM_001142604.1:c.125-2659A>G; 600722.0003
|CLNSIG=5
|CLNCUI=C1850451
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|Disease=Ceroid lipofuscinosis neuronal 1
|CLNACC=RCV000009452.2
|Tags=RV;PM;S3D;NSM;REF;INT;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
}}