Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Tyr1699Cys (p.Y1699C)
(
ENST00000680790.1,
ENST00000298910.12 )
LRRK2 p.Tyr1699Cys (p.Y1699C) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 8
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) AND Autosomal dominant Parkinson disease 8
- ClinVar Allele ID
- 16976
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.5096A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002014
- ClinVar Disease
- Autosomal dominant Parkinson disease 8
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 15541308
- Pubmed
- 15541309
- Pubmed
- 18591067
- Pubmed
- 16003110
Drugs