NOBOX Chromosome 7
NOBOX oogenesis homeobox
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What This Gene Does
This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
7q35
Ensembl
ENSG00000106410
Associated Conditions (5)
Premature ovarian failure 5
Inborn genetic diseases
NOBOX-related disorder
Genetic non-acquired premature ovarian failure
Premature ovarian failure
Key Variants
RS115882574
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5
Health Risk
RS187273709
Conflicting classifications of pathogenicity
Premature ovarian failure 5, NOBOX-related disorder, Premature ovarian failure 5
Health Risk
RS201947677
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Genetic non-acquired premature ovarian failure, Premature ovarian failure 5
Health Risk
RS374879171
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Premature ovarian failure 5
Health Risk
RS531662858
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5
Health Risk
RS762648490
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5
Health Risk
RS77587352
Conflicting classifications of pathogenicity
Premature ovarian failure 5, Premature ovarian failure 5
Health Risk
RS1006463439
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS1218620893
Likely pathogenic
Premature ovarian failure 5, Premature ovarian failure 5
Health Risk
RS1476085935
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS568492478
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS991077121
Likely pathogenic
NOBOX-related disorder, NOBOX-related disorder
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115882574 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5 |
| RS187273709 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, NOBOX-related disorder, Premature ovarian failure 5 |
| RS201947677 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Genetic non-acquired premature ovarian failure, Premature ovarian failure 5 |
| RS374879171 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS531662858 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5 |
| RS762648490 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Inborn genetic diseases, Premature ovarian failure 5 |
| RS77587352 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS1006463439 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS1218620893 | Health Risk | Likely pathogenic | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS1476085935 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS568492478 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS991077121 | Health Risk | Likely pathogenic | NOBOX-related disorder, NOBOX-related disorder |
| RS1353957108 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1563128340 | Health Risk | Pathogenic | — |
| RS193303102 | Health Risk | Pathogenic | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS193303103 | Health Risk | Pathogenic | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS193303104 | Health Risk | Pathogenic | Premature ovarian failure 5, Premature ovarian failure 5 |
| RS2128860927 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2128861344 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS753934412 | Health Risk | Pathogenic | — |