Variant · Snv
NPC1 NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
CI-VAR-00054473Explore in graph →p.Ser1004=NM_000271.5:c.3012G>AClinVar 326252 rs182413311
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 |
|---|---|---|---|---|---|---|---|---|
| 326252 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Niemann-Pick disease, type C1; Papillary renal cell carcinoma type 1; Familial cancer of breast; Malignant tumor of esophagus | germline | 5 | Jan 26, 2026 | clinvar |