PHF8 gene homepage

General information
Gene symbol PHF8
Gene name PHD finger protein 8
Chromosome X
Chromosomal band p11.22
Imprinted Unknown
Genomic reference NG_021309.1
Transcript reference NM_015107.2
Associated with diseases ID, MRXSSD
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 34
Unique public DNA variants reported 30
Individuals with public variants 12
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated November 01, 2018
Version PHF8:181101

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
HGNC 20672
Entrez Gene 23133
PubMed articles PHF8
OMIM - Gene 300560
OMIM - Diseases MRXSSD (mental retardation syndrome, X-linked, Siderius type (MRXSSD))
HGMD PHF8
GeneCards PHF8
GeneTests PHF8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000047 X PHD finger protein 8, transcript variant 2 NM_015107.2 NP_055922.1 34


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