LOVD BSCL2 homepage

General information
Gene name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Gene symbol BSCL2
Chromosome Location 11q13
Database location the Leiden Muscular Dystrophy pages
Curator JT den Dunnen
PubMed references View all (unique) PubMed references in the BSCL2 database
Date of creation May 23, 2012
Last update September 16, 2013
Version BSCL2 130916
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008461.1
Transcript refseq ID NM_001122955.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE NOTE: the BSCL2 database has been moved to LOVDv3

Graphical displays and utilities
Summary tables Summary of all sequence variants in the BSCL2 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External link The BSCL2 database has been moved to LOVDv3

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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