Variant · Snv
UQCRC2 NM_003366.4(UQCRC2):c.1281G>A (p.Ala427=)
CI-VAR-00057544Explore in graph →p.Ala427=NM_003366.4:c.1281G>AClinVar 380179 rs7282
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 |
|---|---|---|---|---|---|---|---|---|
| 380179 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Uterine carcinosarcoma; Adrenocortical carcinoma, hereditary; Cholangiocarcinoma; Familial cancer of breast; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse | germline | 5 | Feb 03, 2026 | clinvar |