rs369966754

This variant is located in the NR5A1 gene.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Oligosynaptic infertility;46,XY disorder of sex development

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…