LOVD SMC1A homepage

General information
Gene name Structural Maintenance of Chromosomes 1A
Gene symbol SMC1A
Chromosome Location Xp11.22
Database location grenada.lumc.nl
Curator Bert Redeker
PubMed references View all (unique) PubMed references in the SMC1A database
Date of creation September 10, 2009
Last update June 27, 2014
Version SMC1A140627
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_006988.1
Transcript refseq ID NM_006306.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 38
Total number of individuals with variant(s) 46
Total number of variants reported 48
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NOTE The work leading to the establishment of this LSDB was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SMC1A 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SMC1A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SMC1A database
Variants with no known pathogenicity Listing of all SMC1A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 11111
Entrez Gene 8243
OMIM - Gene 300040
OMIM - Disease Cornelia de Lange syndrome, type 2 (CDLS2)
HGMD SMC1A
GeneCards SMC1A
GeneTests SMC1A
External link Orphanet

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.

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.