The SBDS gene homepage

General information
Gene symbol SBDS
Gene name Shwachman-Bodian-Diamond syndrome
Chromosome 7
Chromosomal band q11.22
Imprinted Unknown
Genomic reference NG_007277.1
Transcript reference NM_016038.2
Associated with diseases anemia, Shwachman syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 42
Unique public DNA variants reported 16
Individuals with public variants 11
Hidden variants 3
Notes 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 05, 2011
Date last updated September 15, 2020
Version SBDS:200915

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
External URL Orphanet
HGNC 19440
Entrez Gene 51119
PubMed articles SBDS
OMIM - Gene 607444
OMIM - Diseases anemia (anemia, aplastic, incl. susceptibility to)
Shwachman syndrome
GeneCards SBDS
GeneTests SBDS

Active transcripts




NCBI ID     

NCBI Protein ID     

00000189 7 Shwachman-Bodian-Diamond syndrome NM_016038.2 NP_057122.2 42

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 © 2011-2020. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.