Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Gly2385Arg (p.G2385R)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Gly2385Arg (p.G2385R) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) AND Parkinson disease
- ClinVar Allele ID
- 16982
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.7153G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2020-09-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001449818
- ClinVar Disease
- Parkinson disease
- Observed Origin Sample
- germline
Drugs