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) LOVD-team, but with Curator vacancy
Total number of public variants reported 16
Unique public DNA variants reported 16
Individuals with public variants 4
Hidden variants 2
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 June 16, 2020
Version WHSC1:200616

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))
GeneCards WHSC1
GeneTests WHSC1

Active transcripts




NCBI ID     

NCBI Protein ID     

00022833 4 transcript variant 1 NM_133330.2 NP_579877.1 16

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