The CSTB gene homepage

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_000100.3
Exon/intron information NM_000100.3 exon/intron table
Associated with diseases EPM1A
Citation reference(s) PubMed: Joensuu 2008
Refseq URL Genomic reference sequence
Curators (2) Tarja Joensuu and Anna-Elina Lehesjoki
Total number of public variants reported 43
Unique public DNA variants reported 30
Individuals with public variants 9
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated September 17, 2021
Version CSTB:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000100.3.
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 https://www.LOVD.nl/CSTB
External URL Finnish Disease Database
GeneReviews
HGNC 2482
Entrez Gene 1476
PubMed articles CSTB
OMIM - Gene 601145
OMIM - Diseases EPM1A (epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg))
HGMD CSTB
GeneCards CSTB
GeneTests CSTB
Orphanet CSTB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025580 21 cystatin B (stefin B) NM_000100.3 NP_000091.1 43


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