rs759071081

This variant is located in the NR5A1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Non-obstructive azoospermia; Male infertility

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About NR5A1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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