Variant · Insertion
ERCC4 NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
CI-VAR-00286686Explore in graph →p.Leu816_Lys817insGlnGlnSerThrLysNM_005236.3:c.2448_2449insCAACAAAGCACAAAGClinVar 2048776 rs2543196320
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
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 2048776 | Uncertain significance | criteria provided, single submitter | 1 | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | germline | 1 | Dec 19, 2021 | clinvar |