FLCN (folliculin) germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-FLCN-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | FLCN (фолікулін) germline патогенний варіантFLCN germline pathogenic variant |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "FLCN", "gene_hugo_id": "HGNC:27310", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
FLCN germline — drives Birt-Hogg-Dubé (BHD) syndrome: chromophobe / oncocytic RCC + cutaneous fibrofolliculomas + pulmonary cysts + spontaneous pneumothorax. STUB.
Used By
No reverse references found in the YAML corpus.