Variant · Snv
EPB41L1 NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg)
CI-VAR-00033197Explore in graph →p.Lys548ArgNM_012156.2:c.1643A>GClinVar 210945 rs144426436
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 |
|---|---|---|---|---|---|---|---|---|
| 210945 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | EPB41L1-related disorder; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Gastric cancer; Malignant tumor of urinary bladder; Nonpapillary renal cell carcinoma; Lung cancer | germline | 5 | Sep 01, 2024 | clinvar |