Publication
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (4)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 4
- geneVHLcivic_curation1.00
- variantVHL *214C (c.642A>T)civic_curation1.00
- variantVHL *214L (c.641G>T)civic_curation1.00
- variantVHL *214W (c.642A>G)civic_curation1.00
Curated evidence
Evidence citing this paper (3)
- 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
- 20560986
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL *214C (c.642A>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5336This paper identified run-on mutations in 5 members of 4 distinct families. More specifically, genetic testing demonstrated the above mutation (X214CextX15) in 1 individual in a single family. Clinica… (full text at CIViC) PMID 20560986 · Sorrell et al., 2011 · Open in CIViC | civic |
| VHL *214L (c.641G>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID5334Families with VHL disease type 2A were were evaluated for mutations in the VHL gene. In four families, three different coding sequence substitutions causing a 15 amino-acid extension from the original… (full text at CIViC) PMID 20560986 · Sorrell et al., 2011 · Open in CIViC | civic |
| VHL *214W (c.642A>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5335This paper identified run-on mutations in 5 members of 4 distinct families. More specifically, genetic testing demonstrated the above mutation (X214WextX15) in 1 individual in a single family. Clinica… (full text at CIViC) PMID 20560986 · Sorrell et al., 2011 · Open in CIViC | civic |