Gene
BBS12
Bardet-Biedl syndrome 12
Explore in graph →CI-GENE-00021657HGNC:26648 ENSG00000181004 NCBI 166379 Approved
Curated evidence
Clinical evidence (0)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
Data not yet available
No curated evidence item involves this gene yet.
Cohorts
Alteration frequency by cohort (3)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
cbioportalProvenance
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- PMID
- 26760213
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Medulloblastoma (Sickkids, Nature 2016) mbl_sickkids_2016 | Medulloblastoma | Ssm | 2 | 46 | 4.3% | 102 | cbioportal |
| Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) hnsc_broad | Head and Neck Squamous Cell Carcinoma | Ssm | 3 | 74 | 4.1% | 169 | cbioportal |
| Myeloproliferative Neoplasms (CIMR, NEJM 2013) mpn_cimr_2013 | Myeloproliferative Neoplasm | Ssm | 1 | 151 | 0.7% | 137 | cbioportal |
Literature
Linked publications (0)
Data not yet available
No publication linked to this gene yet.