FH (fumarate hydratase) 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-FH-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | FH (фумарат-гідратаза) germline патогенний варіантFH 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": "FH", "gene_hugo_id": "HGNC:3700", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
FH germline — drives HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer). Aggressive papillary type 2 RCC + cutaneous + uterine leiomyomas. STUB.
Used By
No reverse references found in the YAML corpus.