Variant · Snv
FH NM_000143.4(FH):c.133G>T (p.Ala45Ser)
CI-VAR-00135189Explore in graph →p.Ala45SerNM_000143.4:c.133G>TClinVar 818892 rs1260007300
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 818892 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency | germline | 3 | Mar 31, 2026 | clinvar |