Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser65Leu (p.S65L)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ser65Leu (p.S65L) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- clear cell renal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'genotypes for genes encoding several carcinogen-metabolizing enzymes.' Higher frequency of VHL transversion variants was found in patients with presence of GETT1 and defective NAT1. This missense variant was found in a 68 year-old male (tumour 311).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6131
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1788
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Clear Cell Renal Cell Carcinoma
- Evidence Direction
- Supports
- Evidence Level
- E
- Clinical Significance
- Uncertain Significance
- Pubmed
- 11505222
Drugs