Variant · Snv
PEX6 NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
CI-VAR-00272058Explore in graph →p.Arg379TrpNM_000287.4:c.1135C>TClinVar 2152848 rs1242919516
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 |
|---|---|---|---|---|---|---|---|---|
| 2152848 | Uncertain significance | criteria provided, single submitter | 1 | Peroxisome biogenesis disorder; Malignant tumor of urinary bladder | germline | 2 | Jan 13, 2025 | clinvar |