Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Gly2019Ser (p.G2019S)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease, late-onset
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Parkinson disease, late-onset
- ClinVar Allele ID
- 16979
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.6055G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-05-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001836691
- ClinVar Disease
- Parkinson disease, late-onset
- Observed Origin Sample
- germline
Drugs