rs104894118
This is a variant in the NR5A1 gene that changes a arginine to an leucine.
▶ClinVar annotation
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]
View all NR5A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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