Variant · Snv
COL1A1 NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
CI-VAR-00025559Explore in graph →p.Arg1093CysNM_000088.4:c.3277C>TClinVar 161457 rs72656307
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 |
|---|---|---|---|---|---|---|---|---|
| 161457 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Prostate cancer; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Cardiovascular phenotype | germline/somatic | 8 | Dec 06, 2025 | clinvar |