{{Rsnum
|rsid=386833648
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PPT1
|position=40089490
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000049607.1
|CLNALLE=1
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
|CLNHGVS=NC_000001.11:g.40089490G>T
|CLNSIG=4
|Disease=Ceroid lipofuscinosis neuronal 1
|FwdALT=A
|FwdREF=C
|REF=G
|RSPOS=40089490
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000605000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=386833648
|GENEINFO=PPT1:5538
|GENE_ID=5538
|GENE_NAME=PPT1
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_000310.3:c.456C>A
}}{{PMID Auto
|PMID=21990111
|Title=Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
}}