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General information
Gene symbol CSTB
Gene name cystatin B (stefin B)
Chromosome 21
Chromosomal band q22.3
Imprinted Not imprinted
Genomic reference NG_011545.1
Transcript reference NM_000100.2
Associated with diseases EPM-1A
Citation reference(s) Joensuu et al. 2008
Refseq URL Coding DNA reference sequence
Curators (2) Tarja Joensuu and Anna-Elina Lehesjoki
Total number of public variants reported 24
Unique public DNA variants reported 22
Individuals with public variants 2
Hidden variants 6
Notes This database contains published pathogenic variants for ULD and additional missense and splice variants with unknown or no pathogenity. Information for the latter was collected from NCBI SNPdb database (build 137; http://www.ncbi.nlm.nih.gov/snp) and NHLBI Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS/).

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated December 16, 2016
Version CSTB:161216

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/CSTB
External URL Orphanet
Finnish Disease Database
GeneReviews
HGNC 2482
Entrez Gene 1476
PubMed articles CSTB
OMIM - Gene 601145
OMIM - Diseases EPM-1A (epilepsy, myoclonic, progressive, type 1A (EPM-1A, Unverricht and Lundborg))
HGMD CSTB
GeneCards CSTB
GeneTests CSTB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000265 21 cystatin B (stefin B) NM_000100.2 NP_000091.1 24


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