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HSD3B1

Synonyms
3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
External resources
Summary
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,005
Likely benign
470
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on HSD3B1 gene.

Phenotype class
Patients in 3billion (%)

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