Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Arg1628Pro (p.R1628P)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Arg1628Pro (p.R1628P) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) AND Parkinson disease
- ClinVar Allele ID
- 47804
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.4883G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003993756
- ClinVar Disease
- Parkinson disease
- Observed Origin Sample
- germline
Drugs