Variant · Snv
AP4B1 NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
CI-VAR-00025046Explore in graph →p.Gln23=NM_001253852.3:c.69A>GClinVar 157726 rs117872964
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 |
|---|---|---|---|---|---|---|---|---|
| 157726 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Hereditary spastic paraplegia 47; Inborn genetic diseases; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Cervical cancer; Hepatocellular carcinoma; Gastric cancer; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney | germline | 6 | Jan 20, 2026 | clinvar |