Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Gln164Arg (p.Q164R)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Gln164Arg (p.Q164R) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- pheochromocytoma
- Source Database
- DisGeNET
- Description
- The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age.
- Pubmed
- 20583150
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.415849807388327
- Year of publication
- 2010
Drugs