{{Rsnum
|rsid=148412181
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PPT1
|position=40080483
|Gene_s=PPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,T
|CHROM=1
|CLNACC=RCV000049613.1
|CLNALLE=1
|CLNDBN=Ceroid lipofuscinosis neuronal 1
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1428:C1850451:256730
|CLNHGVS=NC_000001.11:g.40080483C>A
|CLNSIG=4
|Disease=Ceroid lipofuscinosis neuronal 1
|FwdALT=A,T
|FwdREF=C
|GENEINFO=PPT1:5538
|GENE_ID=5538
|GENE_NAME=PPT1
|REF=C
|RSPOS=40080483
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050268000a05000002110100
|WGT=1
|dbSNPBuildID=134
|rsid=148412181
|CLNORIGIN=0
|CLNSRC=ClinVar
|CLNSRCID=NM_000310.3:c.541G>T
}}{{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.
}}