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: Autosomal dominant Parkinson disease 8
Source Database: ClinVar
Description: NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Autosomal dominant Parkinson disease 8
Observed Origin Sample: germline
Observed Origin Sample: unknown
Pubmed: 15732108
Pubmed: 16966502
Pubmed: 17938369
Pubmed: 17060595
Pubmed: 16401756
Pubmed: 17050822
Pubmed: 18704525
Pubmed: 16436781
Pubmed: 21115957
Pubmed: 16436782
Pubmed: 16960813
Pubmed: 16269541
Pubmed: 20008657
Pubmed: 15929036
Pubmed: 15680457
Pubmed: 16311269
Pubmed: 16728648
Pubmed: 15680456
Pubmed: 15680455
Pubmed: 15726496
Pubmed: 16533964
Pubmed: 19020907
Pubmed: 16240353
Pubmed: 23075850
Pubmed: 15852371
Pubmed: 18981379
Pubmed: 19283415
Pubmed: 16145815
Pubmed: 17353388
Pubmed: 17215492
Pubmed: 15811455
ClinVar Allele ID: 16979
ClinVar RefSeq Alternation Syntax: NM_198578.4:c.6055G>A
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2024-01-26
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000002017
ClinVar Disease: Autosomal dominant Parkinson disease 8

Drugs