{{Rsnum
|rsid=188259026
|Gene=CLN8
|Chromosome=8
|position=1771563
|Orientation=plus
|GMAF=0.0004591
|Gene_s=CLN8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=T
|CAF=0.9995; 0.0004591
|CHROM=8
|CLNACC=RCV000050125.1
|CLNALLE=1
|CLNDBN=Ceroid lipofuscinosis neuronal 8
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet
|CLNDSDBID=NBK1428:C1838570:600143:168491:228354:79264
|CLNHGVS=NC_000008.10:g.1719729C>T
|CLNSIG=4
|COMMON=0
|Disease=Ceroid lipofuscinosis neuronal 8
|FwdALT=T
|FwdREF=C
|GENEINFO=CLN8:2055
|GENE_ID=2055
|GENE_NAME=CLN8
|REF=C
|RSPOS=1719729
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000016110100
|WGT=0
|dbSNPBuildID=135
|rsid=188259026
}}{{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.
}}