HSD3B1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
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. [provided by RefSeq, Jun 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763658066 | 1:120,050,125 | C/G | — | uncertain significance |
| rs587743300 | 1:120,050,137 | G/T | — | uncertain significance |
| rs587670461 | 1:120,050,160 | C/T | — | uncertain significance |
| rs145698516 | 1:120,050,161 | G/A | — | uncertain significance |
| rs2525898560 | 1:120,050,197 | G/C | — | uncertain significance |
| rs144261994 | 1:120,050,210 | G/C | — | uncertain significance |
| rs3765945 | 1:120,051,446 | G/C | — | — |
| rs138025303 | 1:120,054,190 | G/C | — | uncertain significance |
| rs375832991 | 1:120,054,206 | G/A | — | likely benign |
| rs587609784 | 1:120,054,212 | G/T | — | uncertain significance |
| rs6201 | 1:120,054,215 | A/G | — | benign |
| rs377655283 | 1:120,054,227 | G/A | — | uncertain significance |
| rs587715330 | 1:120,054,259 | C/G | — | uncertain significance |
| rs6428830 | 1:120,054,775 | A/C | — | — |
| rs148057809 | 1:120,056,534 | G/A | — | uncertain significance |
| rs199674102 | 1:120,056,582 | C/T | — | uncertain significance |
| rs757262884 | 1:120,056,649 | C/T | — | uncertain significance |
| rs757135187 | 1:120,056,675 | G/A | — | uncertain significance |
| rs1557896986 | 1:120,056,811 | A/G | — | uncertain significance |
| rs774738158 | 1:120,056,820 | A/G | — | uncertain significance |
| rs587776503 | 1:120,056,858 | A/T | — | not provided |
| rs2525915803 | 1:120,056,865 | T/A | — | uncertain significance |
| rs368693536 | 1:120,056,882 | G/T | — | uncertain significance |
| rs771204556 | 1:120,056,883 | C/T | — | uncertain significance |
| rs1654037427 | 1:120,056,888 | A/G | — | uncertain significance |
| rs772688126 | 1:120,056,895 | G/A | — | likely benign |
| rs766074041 | 1:120,056,930 | C/T | — | uncertain significance |
| rs1235271959 | 1:120,056,968 | A/C | — | uncertain significance |
| rs377703942 | 1:120,056,975 | G/T | — | uncertain significance |
| rs765077190 | 1:120,056,981 | C/T | — | likely benign |
| rs2525916266 | 1:120,057,000 | G/A | — | uncertain significance |
| rs776151747 | 1:120,057,001 | C/A | — | uncertain significance |
| rs747501093 | 1:120,057,081 | G/A | — | likely benign |
| rs587764853 | 1:120,057,095 | C/A | — | uncertain significance |
| rs6203 | 1:120,057,158 | C/G | missense variant | — |
| rs781486795 | 1:120,057,186 | A/G | — | uncertain significance |
| rs1654055115 | 1:120,057,189 | A/G | — | uncertain significance |
| rs1047303 | 1:120,057,246 | C/A | missense variant | drug response |
| rs2525917252 | 1:120,057,259 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.