NR5A1 Chromosome 9

Nuclear receptor subfamily 5 group A member 1
107 variants 107 Health Risk

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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
RS121918655 Health Risk Pathogenic 46, XY sex reversal 3, Premature ovarian failure 7
RS121918656 Health Risk Pathogenic 46, XY sex reversal 3, Premature ovarian failure 7
RS145936761 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS1554721883 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS1564150329 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS1588613754 Health Risk Pathogenic —
RS1588622082 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS1832340912 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS1832447335 Health Risk Pathogenic 46, XX sex reversal 4, 46
RS1832456567 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS1832493257 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS201095702 Health Risk Pathogenic Spermatogenic failure 8, Spermatogenic failure 8
RS2131269262 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131277756 Health Risk Pathogenic 46, XY partial gonadal dysgenesis, 46
RS2131279850 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2131279852 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS2131279881 Health Risk Pathogenic —
RS2131286914 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2131286921 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2131289685 Health Risk Pathogenic Disorder of sexual differentiation, 46, XY sex reversal 3
RS2131289687 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2131289701 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2131289726 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131289737 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2131289833 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131289973 Health Risk Pathogenic 46, XY sex reversal 3, XY disorder of sex development
RS2131289982 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2131290040 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS2538665084 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2538673493 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2538674111 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS2538683564 Health Risk Pathogenic NR5A1-related disorder, 46, XY sex reversal 3
RS2538683958 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2538683985 Health Risk Pathogenic Oligosynaptic infertility, 46, XY disorder of sex development
RS2538684764 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2538687076 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS2538687191 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS387906690 Health Risk Pathogenic Spermatogenic failure 8, Spermatogenic failure 8
RS606231205 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS606231206 Health Risk Pathogenic 46, XY sex reversal 3, Premature ovarian failure 7
RS606231207 Health Risk Pathogenic 46, XY sex reversal 3, Premature ovarian failure 7
RS606231208 Health Risk Pathogenic Premature ovarian failure 7, Premature ovarian failure 7
RS754336683 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS773032761 Health Risk Pathogenic 46, XY disorder of sex development, Oligosynaptic infertility
RS775441984 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS779406677 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS863224904 Health Risk Pathogenic 46, XY sex reversal 3, 46
RS866712684 Health Risk Pathogenic 46, XY sex reversal 3, XY disorder of sex development
RS1057517779 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 3, Genetic non-acquired premature ovarian failure
RS1554721235 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 3, Genetic non-acquired premature ovarian failure
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