{{Rsnum
|rsid=119455954
|Chromosome=11
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TPP1
|position=6616056
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TPP1
}}{{omim
|id=607998
|rsnum=119455954
|variant=0002
}}{{ClinVar
|rsid=119455954
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=6637287
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=TPP1:1200
|GENE_NAME=TPP1
|GENE_ID=1200
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.6637287C>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=607998.0002; VAR_005644
|CLNSIG=5
|CLNCUI=C1876161
|CLNDBN=Ceroid lipofuscinosis, neuronal, 2
|Disease=Ceroid lipofuscinosis
|CLNACC=RCV000002761.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet
|CLNDSDBID=NBK1428:C1876161:204500:168491:228349:79264
}}{{PMID Auto
|PMID=9295267
|Title=Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
}}

{{PMID Auto
|PMID=10330339
|Title=Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|OA=1
}}