LOVD NSD1 homepage

General information
Gene name Nuclear receptor binding SET Domain protein 1
Gene symbol NSD1
Chromosome Location 5q35.2-q35.3
Database location chromium.liacs.nl
Curator Martine van Belzen
PubMed references View all (unique) PubMed references in the NSD1 database
Date of creation January 01, 2008
Last update January 24, 2011
Version NSD1 110124
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_009821.1
Transcript refseq ID NM_022455.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 95
Total number of individuals with variant(s) 143
Total number of variants reported 145
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the NSD1 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 NSD1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the NSD1 database
Variants with no known pathogenicity Listing of all NSD1 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 14234
Entrez Gene 64324
OMIM - Gene 606681
OMIM - Disease Sotos syndrome
HGMD NSD1
GeneCards NSD1
GeneTests NSD1
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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