TBC1D30
TBC1 domain family member 30
Summary
Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in several cellular components, including ciliary basal body; cytosol; and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1874173279 | 12:65,218,729 | G/A | — | uncertain significance |
| rs1419636528 | 12:65,224,218 | T/C | — | uncertain significance |
| rs150781447 | 12:65,224,220 | C/T | missense variant | — |
| rs1874922573 | 12:65,225,921 | G/A | — | uncertain significance |
| rs181148724 | 12:65,225,988 | C/T | — | likely benign |
| rs1170945211 | 12:65,226,059 | A/G | — | uncertain significance |
| rs1295631624 | 12:65,230,269 | G/T | — | uncertain significance |
| rs753514605 | 12:65,230,303 | G/A | — | uncertain significance |
| rs756916960 | 12:65,230,307 | G/A | — | uncertain significance |
| rs2539697554 | 12:65,230,369 | A/G | — | uncertain significance |
| rs746992553 | 12:65,230,425 | C/G | — | uncertain significance |
| rs797010351 | 12:65,232,484 | C/T | — | uncertain significance |
| rs773499221 | 12:65,232,498 | A/G | — | uncertain significance |
| rs756548848 | 12:65,237,225 | T/C | — | uncertain significance |
| rs200709523 | 12:65,241,749 | G/T | — | — |
| rs939876 | 12:65,252,118 | A/G | intron variant | — |
| rs747881898 | 12:65,258,509 | C/A | — | uncertain significance |
| rs1358893021 | 12:65,258,559 | G/C | — | uncertain significance |
| rs74099695 | 12:65,260,537 | T/A | — | benign |
| rs908718259 | 12:65,260,605 | G/A | — | uncertain significance |
| rs1341418556 | 12:65,260,660 | A/C | — | uncertain significance |
| rs1226220514 | 12:65,264,457 | G/A | — | uncertain significance |
| rs545132229 | 12:65,264,465 | C/T | — | uncertain significance |
| rs192440856 | 12:65,264,526 | G/A | — | uncertain significance |
| rs2539782838 | 12:65,268,816 | G/A | — | uncertain significance |
| rs904184573 | 12:65,268,933 | C/T | — | uncertain significance |
| rs1878950096 | 12:65,268,972 | C/T | — | uncertain significance |
| rs553511083 | 12:65,268,991 | G/A | — | uncertain significance |
| rs909822839 | 12:65,269,008 | A/C | — | uncertain significance |
| rs939875 | 12:65,269,047 | G/A | — | benign |
| rs767175581 | 12:65,269,066 | A/T | — | uncertain significance |
| rs1410581905 | 12:65,269,125 | A/G | — | likely benign |
| rs998449349 | 12:65,269,170 | A/G | — | likely benign |
| rs770118592 | 12:65,269,311 | C/T | — | uncertain significance |
| rs2539785159 | 12:65,269,315 | G/A | — | uncertain significance |
| rs935590395 | 12:65,269,336 | C/T | — | likely benign |
| rs117568419 | 12:65,269,339 | C/T | — | uncertain significance |
| rs2539785518 | 12:65,269,375 | C/T | — | uncertain significance |
| rs920583106 | 12:65,269,431 | C/T | — | uncertain significance |
| rs751798157 | 12:65,269,438 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.