NR5A1 Chromosome 9
Nuclear receptor subfamily 5 group A member 1
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What This Gene Does
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nuclear receptor subfamily 5 group A
Locus Type
gene with protein product
Location
9q33.3
Ensembl
ENSG00000136931
Associated Conditions (17)
NR5A1-related disorder
Oligosynaptic infertility
46
XY disorder of sex development
Male infertility
XX sex reversal 4
Spermatogenic failure 8
Non-obstructive azoospermia
Premature ovarian failure 7
Male infertility with azoospermia or oligozoospermia due to single gene mutation
XY sex reversal 3
See cases
Genetic non-acquired premature ovarian failure
ADRENAL INSUFFICIENCY
NR5A1-RELATED
Disorder of sexual differentiation
XY partial gonadal dysgenesis
Key Variants
RS140408680
Conflicting classifications of pathogenicity
Health Risk
RS141555967
Conflicting classifications of pathogenicity
NR5A1-related disorder, Oligosynaptic infertility, 46
Health Risk
RS142188133
Conflicting classifications of pathogenicity
NR5A1-related disorder, Oligosynaptic infertility, 46
Health Risk
RS146454575
Conflicting classifications of pathogenicity
Oligosynaptic infertility, 46, XY disorder of sex development
Health Risk
RS1564153753
Conflicting classifications of pathogenicity
46, XX sex reversal 4, Oligosynaptic infertility
Health Risk
RS200163795
Conflicting classifications of pathogenicity
46, XY disorder of sex development, Oligosynaptic infertility
Health Risk
RS369097872
Conflicting classifications of pathogenicity
Male infertility, Non-obstructive azoospermia, Spermatogenic failure 8
Health Risk
RS371701248
Conflicting classifications of pathogenicity
Oligosynaptic infertility, 46, XY disorder of sex development
Health Risk
RS535621711
Conflicting classifications of pathogenicity
Oligosynaptic infertility, 46, XY disorder of sex development
Health Risk
RS761496130
Conflicting classifications of pathogenicity
Oligosynaptic infertility, 46, XY disorder of sex development
Health Risk
RS774216266
Conflicting classifications of pathogenicity
46, XY disorder of sex development, Oligosynaptic infertility
Health Risk
RS780568525
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Spermatogenic failure 8, Oligosynaptic infertility
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140408680 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141555967 | Health Risk | Conflicting classifications of pathogenicity | NR5A1-related disorder, Oligosynaptic infertility, 46 |
| RS142188133 | Health Risk | Conflicting classifications of pathogenicity | NR5A1-related disorder, Oligosynaptic infertility, 46 |
| RS146454575 | Health Risk | Conflicting classifications of pathogenicity | Oligosynaptic infertility, 46, XY disorder of sex development |
| RS1564153753 | Health Risk | Conflicting classifications of pathogenicity | 46, XX sex reversal 4, Oligosynaptic infertility |
| RS200163795 | Health Risk | Conflicting classifications of pathogenicity | 46, XY disorder of sex development, Oligosynaptic infertility |
| RS369097872 | Health Risk | Conflicting classifications of pathogenicity | Male infertility, Non-obstructive azoospermia, Spermatogenic failure 8 |
| RS371701248 | Health Risk | Conflicting classifications of pathogenicity | Oligosynaptic infertility, 46, XY disorder of sex development |
| RS535621711 | Health Risk | Conflicting classifications of pathogenicity | Oligosynaptic infertility, 46, XY disorder of sex development |
| RS761496130 | Health Risk | Conflicting classifications of pathogenicity | Oligosynaptic infertility, 46, XY disorder of sex development |
| RS774216266 | Health Risk | Conflicting classifications of pathogenicity | 46, XY disorder of sex development, Oligosynaptic infertility |
| RS780568525 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Spermatogenic failure 8, Oligosynaptic infertility |
| RS886039769 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 3, XX sex reversal 4 |
| RS104894126 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS1064794281 | Health Risk | Likely pathogenic | — |
| RS1184635512 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1234904066 | Health Risk | Likely pathogenic | — |
| RS1483691434 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1554721033 | Health Risk | Likely pathogenic | — |
| RS1564146922 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, Oligosynaptic infertility |
| RS1588618614 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, Non-obstructive azoospermia |
| RS1588621944 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS1832496555 | Health Risk | Likely pathogenic | — |
| RS1832496590 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS185071408 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS2131269203 | Health Risk | Likely pathogenic | — |
| RS2131277629 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS2131277648 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS2131286907 | Health Risk | Likely pathogenic | Premature ovarian failure 7, Premature ovarian failure 7 |
| RS2131289790 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS2131289951 | Health Risk | Likely pathogenic | — |
| RS2131290009 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS2538665254 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2538676331 | Health Risk | Likely pathogenic | NR5A1-related disorder, NR5A1-related disorder |
| RS2538676383 | Health Risk | Likely pathogenic | Male infertility, Male infertility |
| RS2538676475 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, Oligosynaptic infertility |
| RS2538683535 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, Oligosynaptic infertility |
| RS2538683556 | Health Risk | Likely pathogenic | — |
| RS2538684217 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2538684736 | Health Risk | Likely pathogenic | NR5A1-related disorder, NR5A1-related disorder |
| RS2538687051 | Health Risk | Likely pathogenic | Oligosynaptic infertility, 46, XY disorder of sex development |
| RS2538687504 | Health Risk | Likely pathogenic | 46, XY sex reversal 3, 46 |
| RS2538687549 | Health Risk | Likely pathogenic | See cases, See cases |
| RS964393137 | Health Risk | Likely pathogenic | Male infertility, Male infertility |
| RS104894119 | Health Risk | Pathogenic | 46, XY sex reversal 3, ADRENAL INSUFFICIENCY |
| RS104894120 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |
| RS104894123 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |
| RS104894124 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |
| RS104894125 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |
| RS121918654 | Health Risk | Pathogenic | 46, XY sex reversal 3, 46 |