{{Rsnum
|rsid = 28940573
|Gene = TPP1
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=11
|position=6617046
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TPP1
}}{{omim
|desc=CEROID LIPOFUSCINOSIS, NEURONAL, 2
|id=607998
|rsnum=28940573
|variant=0006
}}

{{ClinVar
|rsid=28940573
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=6638277
|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.6638277G>A
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=607998.0006; VAR_009605
|CLNSIG=5
|CLNCUI=C1876161
|CLNDBN=Ceroid lipofuscinosis, neuronal, 2
|Disease=Ceroid lipofuscinosis
|CLNACC=RCV000002765.3
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet
|CLNDSDBID=NBK1428:C1876161:204500:168491:228349:79264
}}

{{PMID|10665500}} Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

{{PMID|12698559}} [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}