Variant · Snv
XDH NM_000379.4(XDH):c.339C>T (p.Cys113=)
CI-VAR-00338896Explore in graph →p.Cys113=NM_000379.4:c.339C>TClinVar 3048445 rs118042822
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 3048445 | Likely benign | criteria provided, single submitter | 1 | XDH-related disorder; Squamous cell carcinoma of the head and neck; Xanthinuria type II | germline | 3 | Jun 12, 2025 | clinvar |