Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Ile2012Thr (p.I2012T)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2012Thr (p.I2012T) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- essential tremor
- Source Database
- DisGeNET
- Description
- The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.
- Pubmed
- 16939701
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00854418168799245
- Year of publication
- 2006
Drugs