Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Tyr156Cys (p.Y156C)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Tyr156Cys (p.Y156C) ( 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. Seven patients were found with this missense varaint in the VHL gene. The ages of the patients was represented as a range 7-88. Phenotypes were grouped together: phenochromocytoma and renal cysts, although it is unclear if only one of the seven patients had renal cysts. Family history was not described.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6516
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1946
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 24132471
Drugs