Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Arg1441Cys (p.R1441C)
(
ENST00000680790.1,
ENST00000298910.12 )
LRRK2 p.Arg1441Cys (p.R1441C) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) AND not provided
- ClinVar Allele ID
- 16977
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.4321C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002472921
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs