Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.His115Pro (p.H115P)
(
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1,
ENST00000256474.3,
ENST00000345392.3 )
VHL p.His115Arg (p.H115R) ( ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1, ENST00000256474.3, ENST00000345392.3, ENST00000696143.2 )
VHL p.His115Leu (p.H115L) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 )
VHL p.His115Pro (p.H115P) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 )
VHL p.His115Arg (p.H115R) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 )
VHL p.His115Leu (p.H115L) ( ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1, ENST00000256474.3 ) - Associated Disease
- Von Hippel-Lindau syndrome
- Source Database
- DisGeNET
- Description
- Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate for the cause of von Hippel-Lindau syndrome via the VHL gene.
- Pubmed
- 18836774
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.658392405606355
- Year of publication
- 2008
Drugs