Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Pro81Ser (p.P81S)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Pro81Ser (p.P81S) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- Conventional (Clear Cell) Renal Cell Carcinoma
- Source Database
- DisGeNET
- Description
- The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known.
- Pubmed
- 23990666
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.142529675382665
- Year of publication
- 2013
Drugs