FOXC1 Chromosome 6
Forkhead box C1
Upload your DNA to see your personal genotypes for variants in FOXC1.
What This Gene Does
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
6p25.3
Ensembl
ENSG00000054598
Associated Conditions (13)
Axenfeld-Rieger syndrome type 3
Inborn genetic diseases
Structural eye disease
Anterior segment dysgenesis 3
FOXC1-related disorder
Congenital anomaly of kidney and urinary tract
Anterior segment dysgenesis
Glaucoma of childhood
Axenfeld-Rieger anomaly with partially absent eye muscles
distinctive face
hydrocephaly
and skeletal abnormalities
Hypertelorism and tetralogy of fallot
Key Variants
RS121909338
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS1400944385
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS141798688
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS142371761
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Inborn genetic diseases, Axenfeld-Rieger syndrome type 3
Health Risk
RS1581373871
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS1762523183
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS188085399
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS2113111795
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Structural eye disease, Anterior segment dysgenesis 3
Health Risk
RS2480502800
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
RS2480506700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Anterior segment dysgenesis 3, Inborn genetic diseases
Health Risk
RS369346224
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, FOXC1-related disorder, Axenfeld-Rieger syndrome type 3
Health Risk
RS529227054
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
Health Risk
All Variants (144)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480501835 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480501865 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480501881 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480501985 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502053 | Health Risk | Pathogenic | — |
| RS2480502065 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502104 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502130 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502393 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502418 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502469 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502742 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502767 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504227 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504244 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504308 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504690 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504901 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480504935 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480505086 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480505650 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480505702 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480506120 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480507296 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480507628 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS368260972 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS376405759 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS483352810 | Health Risk | Pathogenic | — |
| RS527271139 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS562467758 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS730882054 | Health Risk | Pathogenic | — |
| RS752535248 | Health Risk | Pathogenic | — |
| RS760676014 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS886039568 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS886044143 | Health Risk | Pathogenic | — |
| RS1057519479 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Hypertelorism and tetralogy of fallot, Axenfeld-Rieger syndrome type 3 |
| RS1554101000 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS1762536800 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2113110795 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2113112720 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480502820 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS2480505189 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly |
| RS2480506067 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3 |
| RS372857241 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3, Axenfeld-Rieger syndrome type 3 |