HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants295 total

rsidPosition (GRCh37)AllelesClassClinVar
rs352263811:119,957,770G/A—conflicting classifications of pathogenicity
rs5876886471:119,957,809T/C—uncertain significance
rs7766562231:119,958,043A/T—pathogenic
rs1164495081:119,958,047G/T—likely benign
rs13631848961:119,958,048C/T—likely benign
rs7653354181:119,958,051G/A—pathogenic
rs9289032001:119,958,054C/T—likely benign
rs3762076061:119,958,055T/A—conflicting classifications of pathogenicity
rs7664749961:119,958,057C/A—pathogenic
rs16516763761:119,958,064A/G—uncertain significance
rs12205778601:119,958,069A/G—likely benign
rs289348801:119,958,071C/Amissense variantpathogenic
rs7678813001:119,958,075A/G—likely benign
rs7566075911:119,958,077G/A—pathogenic
rs7783030291:119,958,078G/A—likely benign
rs21013353671:119,958,081T/A—likely benign
rs13863220271:119,958,083T/C—uncertain significance
rs21013353971:119,958,090G/A—likely benign
rs7579576051:119,958,093G/A—likely benign
rs7776054481:119,958,096C/T—likely benign
rs21013354681:119,958,099C/T—likely benign
rs7698287291:119,958,102C/G—likely benign
rs25263730391:119,958,118A/T—pathogenic
rs25263733181:119,958,123A/G—likely benign
rs9917670361:119,958,132G/A—likely benign
rs7710618901:119,958,138G/A—likely benign
rs13602119501:119,958,141C/T—likely benign
rs7530463621:119,958,156C/T—likely benign
rs25263734311:119,958,159A/G—likely benign
rs3707328451:119,958,166T/C—likely benign
rs3747852661:119,958,169A/C—likely benign
rs1113332221:119,958,174G/A—likely benign
rs25263735141:119,958,175G/T—pathogenic
rs25263735491:119,958,193A/T—likely benign
rs7510987351:119,958,195T/C—likely benign
rs13693258131:119,958,199G/A—likely benign
rs7546679191:119,958,200T/G—likely benign
rs25263735711:119,958,201C/T—likely benign
rs16516832891:119,958,202A/T—likely benign
rs28549621:119,960,296C/Tintron variant—
rs28549641:119,961,379T/Aintron variant—
rs1141116841:119,961,826G/A—likely benign
rs7609807991:119,962,021C/G—likely benign
rs7645346511:119,962,022C/G—likely benign
rs7542358441:119,962,024G/A—likely benign
rs7623807331:119,962,026C/A—likely benign
rs21013434651:119,962,031G/C—likely benign
rs2004833031:119,962,034C/T—benign
rs25263828711:119,962,037A/G—likely benign
rs13993982741:119,962,040G/C—likely pathogenic
rs7524175641:119,962,045C/G—likely benign
rs13298357421:119,962,048G/A—likely benign
rs15708197511:119,962,057C/G—likely benign
rs25263829891:119,962,066T/G—likely benign
rs21013436021:119,962,087G/A—likely benign
rs3756793881:119,962,105A/G—likely benign
rs7756333311:119,962,111C/A—likely benign
rs21013436651:119,962,114C/A—pathogenic
rs49869541:119,962,118G/A—likely benign
rs1508929281:119,962,120C/T—conflicting classifications of pathogenicity
rs7657481231:119,962,121G/A—likely benign
rs7738827171:119,962,123C/G—likely benign
rs7671473301:119,962,126G/A—likely benign
rs7523295121:119,962,129C/T—likely benign
rs7637123491:119,962,138C/A—uncertain significance
rs7536452021:119,962,141C/T—likely benign
rs7570339961:119,962,142G/A—pathogenic
rs5877172861:119,962,144C/T—likely benign
rs9963236691:119,962,156T/C—likely benign
rs16518034061:119,962,159C/A—likely benign
rs12638869941:119,962,162T/C—likely benign
rs21013438161:119,962,165T/A—likely benign
rs25263834191:119,962,172C/G—uncertain significance
rs16518038361:119,962,174C/T—likely benign
rs62111:119,962,178G/C—likely benign
rs25263834821:119,962,183C/T—likely benign
rs7671954491:119,962,185T/C—uncertain significance
rs25263835111:119,962,192T/C—likely benign
rs25263835221:119,962,193G/T—uncertain significance
rs13885179431:119,962,197A/G—pathogenic
rs16518044931:119,962,198T/C—likely benign
rs7524530601:119,962,199G/T—likely benign
rs7767614931:119,962,206G/A—pathogenic
rs21013439441:119,962,213A/G—likely benign
rs14714257831:119,962,218G/C—likely benign
rs25263836941:119,962,222A/T—likely benign
rs595979161:119,964,135C/T—benign
rs581549331:119,964,255T/C—benign
rs13243458161:119,964,412A/G—likely benign
rs14451182681:119,964,414C/T—likely benign
rs12677818261:119,964,416T/C—likely benign
rs25263911071:119,964,417G/A—likely benign
rs7502866301:119,964,418C/A—conflicting classifications of pathogenicity
rs16518844861:119,964,420C/G—likely benign
rs3750477991:119,964,423C/T—conflicting classifications of pathogenicity
rs3717129281:119,964,424G/A—conflicting classifications of pathogenicity
rs25263911371:119,964,427G/C—likely benign
rs25263911471:119,964,431G/C—likely pathogenic
rs25263911511:119,964,432G/T—uncertain significance
rs25263911531:119,964,433T/C—likely benign

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.