{{Rsnum
|rsid=56144125
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=TPP1
|position=6617154
|Gene_s=TPP1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G,T
|CAF=1; 0
|CHROM=11
|CLNACC=RCV000002763.3; RCV000074608.2
|CLNALLE=1
|CLNDBN=Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1428:C1876161:204500:168491:228349:79264; C1836474:609270:284324
|CLNHGVS=NC_000011.9:g.6638385C>G
|CLNSIG=5
|CLNSRC=GTR; GeneReviews; OMIM Allelic Variant
|CLNSRCID=GTR000330881; NBK1428; 607998.0004
|COMMON=0
|Disease=Ceroid lipofuscinosis; Spinocerebellar ataxia
|FwdALT=G,T
|FwdREF=C
|GENEINFO=TPP1:1200
|GENE_ID=1200
|GENE_NAME=TPP1
|REF=C
|RSPOS=6638385
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;VLD;HD;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x05006000000004041e110100
|WGT=0
|dbSNPBuildID=129
|rsid=56144125
}}