{{Rsnum
|rsid=386833638
|Chromosome=1
|Orientation=minus
|geno1=(CAAGTAACAACAGTGTG;CAAGTAACAACAGTGTG)
|geno2=(CAAGTAACAACAGTGTG;TT)
|geno3=(TT;TT)
|Gene=PPT1
|position=40092120
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=AAA
|CHROM=1
|CLNACC=RCV000049597.1
|CLNALLE=1
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
|CLNHGVS=NC_000001.11:g.40092120_40092136del17insAA
|CLNSIG=4
|Disease=Ceroid lipofuscinosis neuronal 1
|FwdALT=TT
|FwdREF=CAAGTAACAACAGTGTG
|REF=ACACACTGTTGTTACTTG
|RSPOS=40092119
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;INT;ASP;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068080005000002110200
|WGT=1
|dbSNPBuildID=137
|rsid=386833638
|GENEINFO=PPT1:5538
|GENE_ID=5538
|GENE_NAME=PPT1
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_000310.3:c.271_287del17insTT; NM_001142604.1:c.125-2624_125-2608del17insTT
}}{{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.
}}