FOXF1 Chromosome 16
Forkhead box F1
Upload your DNA to see your personal genotypes for variants in FOXF1.
What This Gene Does
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000103241
Associated Conditions (11)
Inborn genetic diseases
Alveolar capillary dysplasia with pulmonary venous misalignment
FOXF1-related disorder
Atresia of urethra
Fetal megacystis
Ventricular septal defect
See cases
Pyloric stenosis
infantile hypertrophic
5
VATER association
Key Variants
RS1457643740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1969551030
Conflicting classifications of pathogenicity
Health Risk
RS201828578
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS574179816
Conflicting classifications of pathogenicity
Alveolar capillary dysplasia with pulmonary venous misalignment, FOXF1-related disorder, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
RS757668134
Conflicting classifications of pathogenicity
Health Risk
RS776649998
Conflicting classifications of pathogenicity
Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
RS1057518868
Likely pathogenic
Atresia of urethra, Fetal megacystis, Ventricular septal defect
Health Risk
RS1064796420
Likely pathogenic
Health Risk
RS1567511932
Likely pathogenic
Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
RS1597291235
Likely pathogenic
Alveolar capillary dysplasia with pulmonary venous misalignment, See cases, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
RS1597291380
Likely pathogenic
Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
RS1969548621
Likely pathogenic
Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2507450475 | Health Risk | Pathogenic | — |
| RS2507450479 | Health Risk | Pathogenic | See cases, See cases |
| RS2507450502 | Health Risk | Pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment |
| RS2507450732 | Health Risk | Pathogenic | — |
| RS2507451417 | Health Risk | Pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment |
| RS2507454270 | Health Risk | Pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment |
| RS376766270 | Health Risk | Pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment |
| RS751560567 | Health Risk | Pathogenic | FOXF1-related disorder, FOXF1-related disorder |
| RS2143187074 | Health Risk | Pathogenic/Likely pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment |