Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Arg167Gln (p.R167Q)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg167Gln (p.R167Q) ( 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
- Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Eleven patients were found with this missense varaint in the VHL gene. The ages of the patient was represented as a range, 21-65Y. The phenotypes were presented together: retinal hemangioblastoma, cerebellar hemangioblastoma, spinal cord hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumour, phenchromocytoma, renal cysts, and pancreatic cysts. Family history was not described.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6520
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1739
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 24132471
Drugs