Variant · Snv
UBA1 NM_003334.4(UBA1):c.2388C>A (p.Val796=)
CI-VAR-00283752Explore in graph →p.Val796=NM_003334.4:c.2388C>AClinVar 2030824 rs2521622747
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 |
|---|---|---|---|---|---|---|---|---|
| 2030824 | Uncertain significance | criteria provided, single submitter | 1 | Infantile-onset X-linked spinal muscular atrophy; Thyroid cancer, nonmedullary, 1 | germline | 2 | Sep 16, 2022 | clinvar |