Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Ile1122Val (p.I1122V)
(
ENST00000343742.6,
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Ile1122Val (p.I1122V) ( ENST00000298910.12, ENST00000343742.6, ENST00000680790.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 8
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) AND Autosomal dominant Parkinson disease 8
- ClinVar Allele ID
- 16978
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.3364A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-11-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002016
- ClinVar Disease
- Autosomal dominant Parkinson disease 8
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 15541309
Drugs