rs28383086

This variant is located in the SRD5A2 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided

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About SRD5A2

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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