HSD17B14
hydroxysteroid 17-beta dehydrogenase 14
Summary
17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1247270095 | 19:49,316,457 | A/G | — | uncertain significance |
| rs141811939 | 19:49,316,469 | C/T | — | uncertain significance |
| rs1400589983 | 19:49,316,545 | C/T | — | uncertain significance |
| rs572019970 | 19:49,316,947 | T/C | — | uncertain significance |
| rs34582651 | 19:49,324,625 | C/T | intron variant | — |
| rs150378971 | 19:49,330,752 | T/C | intron variant | — |
| rs2101645 | 19:49,331,269 | G/A | intron variant | — |
| rs549635331 | 19:49,333,135 | G/A | — | — |
| rs2035338361 | 19:49,334,960 | C/T | — | uncertain significance |
| rs201026226 | 19:49,335,964 | C/T | — | uncertain significance |
| rs184605823 | 19:49,336,010 | C/G | downstream gene variant | — |
| rs543657448 | 19:49,337,071 | G/A | — | — |
| rs747155340 | 19:49,337,553 | T/C | — | uncertain significance |
| rs755193292 | 19:49,337,556 | C/T | — | uncertain significance |
| rs139987974 | 19:49,337,559 | C/A | missense variant | — |
| rs774784680 | 19:49,337,589 | C/T | — | uncertain significance |
| rs140351309 | 19:49,337,737 | G/A | regulatory region variant | — |
| rs371646176 | 19:49,338,081 | G/T | — | — |
| rs141772243 | 19:49,339,082 | A/T | — | uncertain significance |
| rs141119542 | 19:49,339,590 | G/A | missense variant | — |
| rs1460458757 | 19:49,339,622 | C/T | — | uncertain significance |
| rs113246661 | 19:49,339,623 | C/A | missense variant | — |
| rs141821038 | 19:49,340,024 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.