Variant · Deletion
AAGAB NM_024666.5(AAGAB):c.451+3_451+6del
CI-VAR-00271872Explore in graph →NM_024666.5:c.451+3_451+6delClinVar 2155138 rs748785284
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 |
|---|---|---|---|---|---|---|---|---|
| 2155138 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Palmoplantar keratoderma, punctate type 1A; Colon adenocarcinoma | germline | 3 | Feb 07, 2025 | clinvar |