Variant · Snv
C3 NM_000064.4(C3):c.3753C>A (p.Pro1251=)
CI-VAR-00053434Explore in graph →p.Pro1251=NM_000064.4:c.3753C>AClinVar 330290 rs2230209
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 330290 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency; Age related macular degeneration 9; Atypical hemolytic-uremic syndrome; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Hepatocellular carcinoma; Lung cancer; C3 glomerulonephritis | germline | 9 | Feb 02, 2026 | clinvar |