{{Rsnum
|rsid=386833442
|Chromosome=21
|Orientation=minus
|geno1=(-;-)
|geno2=(-;TC)
|geno3=(TC;TC)
|Gene=CSTB
|position=43774280
|Gene_s=CSTB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=21
|CLNACC=RCV000049369.1
|CLNALLE=1
|CLNDBN=Unverricht-Lundborg syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1142:C0751785:254800:308:230423006
|CLNHGVS=NC_000021.8:g.45194161_45194162delGA
|CLNSIG=4
|Disease=Unverricht-Lundborg syndrome
|FwdREF=TC
|REF=GGA
|RSPOS=45194160
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833442
|GENEINFO=CSTB:1476
|GENE_ID=1476
|GENE_NAME=CSTB
}}{{PMID Auto
|PMID=9012407
|Title=Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
|OA=1
}}

{{PMID Auto
|PMID=9054946
|Title=Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
}}

{{PMID Auto
|PMID=9342192
|Title=Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
}}