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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 Aplastic anemia, Shwachman syndrome
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 8
Unique public DNA variants reported 1
Individuals with public variants 8
Hidden variants 0
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 May 06, 2016
Version SBDS:160506

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 Aplastic anemia
Shwachman syndrome
HGMD SBDS
GeneCards SBDS
GeneTests SBDS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000189 7 Shwachman-Bodian-Diamond syndrome NM_016038.2 NP_057122.2 8


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