{{Rsnum
|rsid=137852695
|Gene=PPT1
|Chromosome=1
|position=40091398
|Orientation=minus
|GMAF=0.001377
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
}}{{omim
|id=600722
|variant=0001
|rsnum=137852695
}}{{ClinVar
|rsid=137852695
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=40091398
|CHROM=1
|GMAF=0.0014
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260080a05000016110100
|GENEINFO=PPT1:5538
|GENE_NAME=PPT1
|GENE_ID=5538
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40091398T>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000310.3:c.364A>T; NM_001142604.1:c.125-1886A>T; NBK1428; 600722.0001
|CLNSIG=5
|CLNCUI=C1850451
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|Disease=Ceroid lipofuscinosis neuronal 1
|CLNACC=RCV000009450.2
|Tags=RV;PM;S3D;NSM;REF;INT;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
|COMMON=1
}}