Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Leu1114= (p.L1114=)
(
ENST00000680790.1,
ENST00000298910.12,
ENST00000343742.6 )
LRRK2 p.Leu1114= (p.L1114=) ( ENST00000298910.12, ENST00000343742.6, ENST00000680790.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 8
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND Autosomal dominant Parkinson disease 8
- ClinVar Allele ID
- 47770
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.3342A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-04-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032438
- ClinVar Disease
- Autosomal dominant Parkinson disease 8
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs