rs386134262

This is a variant in the NR0B1 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter

Congenital adrenal hypoplasia, X-linked (AHC)

About NR0B1

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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