Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Ile2020Thr (p.I2020T)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 8
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) AND Autosomal dominant Parkinson disease 8
- ClinVar Allele ID
- 16980
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.6059T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-05-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002018
- ClinVar Disease
- Autosomal dominant Parkinson disease 8
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16321986
- Pubmed
- 15541309
- Pubmed
- 15880653
- Pubmed
- 9276200
Drugs