NR2F1 Chromosome 5
Nuclear receptor subfamily 2 group F member 1
Upload your DNA to see your personal genotypes for variants in NR2F1.
What This Gene Does
The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Nuclear receptor subfamily 2 group F
Locus Type
gene with protein product
Location
5q15
Ensembl
ENSG00000175745
Associated Conditions (8)
Inborn genetic diseases
Bosch-Boonstra-Schaaf optic atrophy syndrome
Epilepsy
Seizure
Neurodevelopmental delay
NR2F1-related disorder
Autism spectrum disorder
See cases
Key Variants
RS1159055932
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1193147148
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1272746750
Conflicting classifications of pathogenicity
Health Risk
RS1281166433
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1313433161
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1414612574
Conflicting classifications of pathogenicity
Health Risk
RS1468965930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554074665
Conflicting classifications of pathogenicity
Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
Health Risk
RS1561523678
Conflicting classifications of pathogenicity
Health Risk
RS1753203799
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1753205307
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1753213218
Conflicting classifications of pathogenicity
Bosch-Boonstra-Schaaf optic atrophy syndrome, Inborn genetic diseases, Bosch-Boonstra-Schaaf optic atrophy syndrome
Health Risk
All Variants (103)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480802411 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480817945 | Health Risk | Likely pathogenic | — |
| RS2480817986 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2480818013 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS530910180 | Health Risk | Likely pathogenic | — |
| RS587777276 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS587777277 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS764011372 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS863224903 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS886041738 | Health Risk | Likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, See cases, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1022192010 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1057519434 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1064796799 | Health Risk | Pathogenic | — |
| RS1297603674 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1306612236 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1342982789 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1554074673 | Health Risk | Pathogenic | — |
| RS1561523796 | Health Risk | Pathogenic | — |
| RS1580360308 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1753206907 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1753208096 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1753210791 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1753211000 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2149941586 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2149941592 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2149941624 | Health Risk | Pathogenic | — |
| RS2149941660 | Health Risk | Pathogenic | — |
| RS2149942993 | Health Risk | Pathogenic | — |
| RS2149943041 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2149943098 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480800376 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480801085 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480801540 | Health Risk | Pathogenic | — |
| RS2480802143 | Health Risk | Pathogenic | — |
| RS2480802195 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480802272 | Health Risk | Pathogenic | — |
| RS2480802503 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480802519 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480808562 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2480809148 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480809312 | Health Risk | Pathogenic | — |
| RS2480817819 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS2480817831 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS587777274 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS587777275 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS778199728 | Health Risk | Pathogenic | — |
| RS866011766 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS886039714 | Health Risk | Pathogenic | — |
| RS886041216 | Health Risk | Pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome, Inborn genetic diseases, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1131691826 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |