The HDAC8 gene homepage

General information
Gene symbol HDAC8
Gene name histone deacetylase 8
Chromosome X
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_015851.1
Transcript reference NM_018486.2
Exon/intron information NM_018486.2 exon/intron table
Associated with diseases CDLS, CDLS5, ID, WTS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 101
Unique public DNA variants reported 79
Individuals with public variants 94
Hidden variants 3
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 06, 2009
Date last updated November 27, 2023
Version HDAC8:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018486.2.
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
HGNC 13315
Entrez Gene 55869
PubMed articles HDAC8
OMIM - Gene 300269
OMIM - Diseases CDLS5 (Cornelia de Lange syndrome, type 5 (CDLS-5))
WTS (Wilson-Turner syndrome)
GeneCards HDAC8
GeneTests HDAC8
Orphanet HDAC8

Active transcripts




NCBI ID     

NCBI Protein ID     

00000850 X transcript variant 1 NM_018486.2 NP_060956.1 101

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 © 2009-2023. 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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