Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Glu70Ter (p.E70*)
(
ENST00000345392.3,
ENST00000256474.3,
ENST00000713815.1,
ENST00000713982.1,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1 )
VHL p.Glu70Ter (p.E70*) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This nonsense variant was found in a VHL type 1 patient with CNS hemangioblastomas (family ID 4479).
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6059
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1834
- Rating
- 4
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 7728151
Drugs