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 https://www.LOVD.nl/FOXC1
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))
HGMD FOXC1
GeneCards FOXC1
GeneTests FOXC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


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