Variant · Snv
NLRP1 NM_033004.4(NLRP1):c.114G>C (p.Ser38=)
CI-VAR-00058676Explore in graph →p.Ser38=NM_033004.4:c.114G>CClinVar 403241 rs884367
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 |
|---|---|---|---|---|---|---|---|---|
| 403241 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Respiratory papillomatosis, juvenile recurrent, congenital; Autoinflammation with arthritis and dyskeratosis; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome; NLRP1-related disorder | germline | 9 | Feb 04, 2026 | clinvar |