FOXC1 gene homepage

General information
Gene symbol FOXC1
Gene name forkhead box C1
Chromosome 6
Chromosomal band p25
Imprinted Unknown
Genomic reference NG_009368.1
Transcript reference NM_001453.2
Exon/intron information NM_001453.2 exon/intron table
Associated with diseases IRID-1, RIEG-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 29
Individuals with public variants 10
Hidden variants 0
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 April 29, 2010
Date last updated October 28, 2017
Version FOXC1:171028

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_001453.2.
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
External URL Orphanet
HGNC 3800
Entrez Gene 2296
PubMed articles FOXC1
OMIM - Gene 601090
OMIM - Diseases IRID-1 (iridogoniodysgenesis, type 1 (IRID-1))
RIEG-3 (Axenfeld-Rieger syndrome, type 3 (RIEG-3))
GeneCards FOXC1
GeneTests FOXC1

Active transcripts




NCBI ID     

NCBI Protein ID     

00008069 6 forkhead box C1 NM_001453.2 NP_001444.2 38

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2019. 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.

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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.