BBOF1
basal body orientation factor 1
Summary
Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs879931110 | 14:74,486,199 | G/C | — | uncertain significance |
| rs773004393 | 14:74,486,213 | G/A | — | uncertain significance |
| rs759708180 | 14:74,486,231 | A/T | — | uncertain significance |
| rs757872366 | 14:74,489,723 | G/A | — | uncertain significance |
| rs2503964699 | 14:74,489,726 | A/G | — | uncertain significance |
| rs61752569 | 14:74,489,766 | G/T | — | uncertain significance |
| rs768844123 | 14:74,489,785 | G/C | — | uncertain significance |
| rs202047949 | 14:74,495,920 | A/C | — | uncertain significance |
| rs779148940 | 14:74,495,923 | G/A | — | uncertain significance |
| rs368205955 | 14:74,497,636 | T/G | — | — |
| rs200916002 | 14:74,497,638 | T/G | — | — |
| rs756352111 | 14:74,512,767 | G/A | — | uncertain significance |
| rs867000140 | 14:74,512,798 | A/G | — | uncertain significance |
| rs371096556 | 14:74,512,820 | C/T | — | uncertain significance |
| rs1391423538 | 14:74,514,662 | T/C | — | uncertain significance |
| rs185884398 | 14:74,514,758 | C/A | — | uncertain significance |
| rs200080708 | 14:74,516,434 | G/T | — | uncertain significance |
| rs2060024487 | 14:74,516,435 | A/T | — | uncertain significance |
| rs755525883 | 14:74,516,564 | A/G | — | uncertain significance |
| rs201424718 | 14:74,516,856 | G/C | — | uncertain significance |
| rs149259494 | 14:74,522,315 | G/A | — | uncertain significance |
| rs377090766 | 14:74,522,365 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.