Variant · Snv
COL4A1 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
CI-VAR-00031796Explore in graph →p.Gly1332=NM_001845.6:c.3996C>TClinVar 197519 rs150857429
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 |
|---|---|---|---|---|---|---|---|---|
| 197519 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Clear cell carcinoma of kidney; Gastric cancer; Cervical cancer; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Familial cancer of breast | germline | 11 | Jun 01, 2026 | clinvar |