The WHSC1 gene homepage

Gene name changed to NSD2
General information
Gene symbol WHSC1
Gene name Wolf-Hirschhorn syndrome candidate 1
Chromosome 4
Chromosomal band p16.3
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_133330.2
Associated with diseases WHS, Wolf-Hirschhorn syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 36
Unique public DNA variants reported 34
Individuals with public variants 15
Hidden variants 5
Download all this gene's data Download all data
Notes Alias WHSC1.
Gene name changed to NSD2
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version WHSC1:220509

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
Homepage URL https://www.LOVD.nl/NSD2
HGNC 12766
Entrez Gene 7468
PubMed articles WHSC1
OMIM - Gene 602952
OMIM - Diseases WHS (Wolf-Hirschhorn syndrome (WHS, 14p partial monosomy syndrome))
HGMD WHSC1
GeneCards WHSC1
GeneTests WHSC1
Orphanet WHSC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022833 4 transcript variant 1 NM_133330.2 NP_579877.1 36


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2013-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.