LOVD ESCO2 homepage

General information
Gene name Establishment of Cohesion 1 homolog 2
Gene symbol ESCO2
Chromosome Location 8p21.1
Database location chromium.liacs.nl
Curator Birgitt Schuele, MD
PubMed references View all (unique) PubMed references in the ESCO2 database
Date of creation May 30, 2008
Last update January 24, 2011
Version ESCO2 110124
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Total number of unique DNA variants reported 27
Total number of individuals with variant(s) 43
Total number of variants reported 51
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ESCO2 database, sorted by type of variant (with graphical displays and statistics)
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 ESCO2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ESCO2 database
Variants with no known pathogenicity Listing of all ESCO2 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 27230
Entrez Gene 157570
OMIM - Gene 609353
OMIM - Disease Roberts Syndrome
HGMD ESCO2
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.

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