The ZNF469 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol ZNF469
Gene name zinc finger protein 469
Chromosome 16
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_001367624.2
Associated with diseases BCS, BCS1
Citation reference(s) -
Curators (1) Raymond Dalgleish
Total number of public variants reported 59
Unique public DNA variants reported 55
Individuals with public variants 255
Hidden variants 15
Download all this gene's data Download all data
Notes 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 February 26, 2024
Version ZNF469:240226

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/ZNF469
HGNC 23216
Entrez Gene 84627
PubMed articles ZNF469
OMIM - Gene 612078
OMIM - Diseases BCS1 (cornea, brittle, syndrome, type 1 (BCS-1, corneal fragility keratoglobus, blue sclerae and joint hypermobility))
HGMD ZNF469
GeneCards ZNF469
GeneTests ZNF469
Orphanet ZNF469


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025860 16 mRNA NM_001367624.2 NP_001354553.1 59


Copyright & disclaimer
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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.