Variant · Snv
VHL N7D (c.19A>G)
CI-VAR-00002958Explore in graph →NM_000551.3:c.19A>GCIViC 849 rs1311403806
Curated evidence
Evidence by cancer (1 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 11536052
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Renal Cell Carcinoma1 | ||||||||
| VHL N7D (c.19A>G) | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1948A somatic mutation (N7D) detected in one case, a 79ya patient with renal cell carcinoma (case '1VT'). The patient had a second in-frame deletion of 5 amino acids (41-45), but the author speculate that… (full text at CIViC) PMID 11536052 · Ma et al., 2001 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available