Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Asn78Ser (p.N78S)
(
ENST00000345392.3,
ENST00000256474.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Asn78Ser (p.N78S) ( 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
- A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mutation was found in a VHL patient and 2 VHL family members. The single patient had hemangioblastomas of the central nervous system and retina (family no. 8). One of the family members had retinal hemangioblastomas and the other had renal cell carcinoma (family no. 9). HPO terms: hemangioblastoma, retinal hemangioblastoma, renal cell carcinoma.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5491
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1755
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 12114495
Drugs