Variant · Snv
SLC45A2 NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)
CI-VAR-00049767Explore in graph →p.Tyr278TerNM_016180.5:c.834C>GClinVar 286788 rs116887602
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 |
|---|---|---|---|---|---|---|---|---|
| 286788 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Oculocutaneous albinism type 4; SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Uveal melanoma; SLC45A2-related disorder | germline | 7 | Oct 09, 2024 | clinvar |