USP30
ubiquitin specific peptidase 30
Summary
USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4388979 | 12:109,475,012 | G/A | — | — |
| rs369047786 | 12:109,490,497 | G/A | — | uncertain significance |
| rs576888500 | 12:109,490,513 | G/A | — | uncertain significance |
| rs372711001 | 12:109,490,518 | C/T | — | uncertain significance |
| rs370678568 | 12:109,490,557 | C/A | — | uncertain significance |
| rs3742028 | 12:109,491,468 | G/A | regulatory region variant | — |
| rs151089144 | 12:109,495,731 | G/A | — | uncertain significance |
| rs776243810 | 12:109,495,845 | A/T | — | uncertain significance |
| rs761036791 | 12:109,495,878 | A/C | — | uncertain significance |
| rs145382338 | 12:109,505,330 | C/A | — | benign |
| rs767089295 | 12:109,509,436 | A/T | — | uncertain significance |
| rs751375519 | 12:109,510,150 | C/A | — | uncertain significance |
| rs2041507550 | 12:109,511,311 | A/G | — | uncertain significance |
| rs2499872275 | 12:109,511,336 | A/G | — | uncertain significance |
| rs753589445 | 12:109,520,679 | G/A | — | uncertain significance |
| rs371122307 | 12:109,520,703 | C/T | — | uncertain significance |
| rs145279323 | 12:109,520,735 | A/G | — | uncertain significance |
| rs147931793 | 12:109,520,864 | C/T | — | likely benign |
| rs1323696710 | 12:109,522,778 | C/T | — | uncertain significance |
| rs141817954 | 12:109,522,829 | A/G | — | uncertain significance |
| rs200633278 | 12:109,522,830 | C/T | — | uncertain significance |
| rs770666270 | 12:109,522,842 | C/T | — | uncertain significance |
| rs1192229616 | 12:109,522,877 | A/G | — | uncertain significance |
| rs778976494 | 12:109,523,531 | C/A | — | uncertain significance |
| rs1160788227 | 12:109,523,657 | C/T | — | uncertain significance |
| rs1415958657 | 12:109,523,662 | G/A | — | uncertain significance |
| rs749343833 | 12:109,523,680 | G/A | — | uncertain significance |
| rs199671452 | 12:109,523,686 | G/A | — | uncertain significance |
| rs370658959 | 12:109,523,716 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.