Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL MUTATION
VHL MUTATION - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V287). Only moderate evidence of pathogenicity since the protein length changes as a result of an in-frame deletion in a nonrepeat region (AMCG code: PM4).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5653
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2099
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 9829912
Drugs