Variant · Deletion
RECQL4 NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
CI-VAR-00005547Explore in graph →p.Cys525fsNM_004260.4:c.1573delClinVar 6066 rs386833845
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 6066 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome; B lymphoblastic leukemia lymphoma with t(12; 21)(p13; q22); TEL-AML1 (ETV6-RUNX1); High grade surface osteosarcoma; Rothmund-Thomson syndrome type 2; Inborn genetic diseases; RECQL4-related disorder | germline | 18 | Mar 09, 2026 | clinvar |