Variant · Snv
CD247 NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
CI-VAR-00066396Explore in graph →p.Gln101TerNM_198053.3:c.301C>TClinVar 419227 rs55729925
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 |
|---|---|---|---|---|---|---|---|---|
| 419227 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Immunodeficiency 25; CD247-related disorder; Severe combined immunodeficiency disease; Cervical cancer; Adrenocortical carcinoma, hereditary | germline | 8 | Jan 29, 2026 | clinvar |