Variant · Snv
AUH NM_001698.3(AUH):c.483A>C (p.Ile161=)
CI-VAR-00020343Explore in graph →p.Ile161=NM_001698.3:c.483A>CClinVar 128520 rs7874056
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 |
|---|---|---|---|---|---|---|---|---|
| 128520 | Benign | criteria provided, multiple submitters, no conflicts | 2 | 3-methylglutaconic aciduria type 1; Thymoma; Adrenocortical carcinoma, hereditary; Colorectal cancer; Cholangiocarcinoma; Uveal melanoma | germline | 9 | Feb 03, 2026 | clinvar |