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_001166418.1, NM_001166419.1, NM_001166420.1, NM_001166422.1, NM_001166448.1, NM_018486.2
Associated with diseases CDLS-5, ID, Wilson-Turner syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 30
Unique public DNA variants reported 4
Individuals with public variants 18
Hidden variants 10
Date created October 29, 2013
Date last updated September 23, 2016
Version HDAC8:160923

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:13315
Entrez Gene 55869
PubMed articles HDAC8
OMIM - Gene 300269
OMIM - Diseases CDLS-5 (Cornelia de Lange syndrome, type 5 (CDLS-5))
Wilson-Turner syndrome
HGMD HDAC8
GeneCards HDAC8
GeneTests HDAC8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017420 X Manually created transcript. (removed from reference sequence) NM_018486.2 - 30
00017418 X Manually created transcript. (removed from reference sequence) NM_001166418.1 - 29
00017419 X Manually created transcript. NM_001166419.1 - 15
00003530 X transcript variant 6 NM_001166448.1 NP_001159920.1 14
00027663 X Manually created transcript NM_001166420.1 - 9
00027664 X Manually created transcript NM_001166422.1 - 9


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