Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Arg1441His (p.R1441H)
(
ENST00000680790.1,
ENST00000298910.12 )
LRRK2 p.Arg1441His (p.R1441H) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Autosomal dominant Parkinson disease 8
- Source Database
- ClinVar
- Description
- NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) AND Autosomal dominant Parkinson disease 8
- ClinVar Allele ID
- 16981
- ClinVar RefSeq Alternation Syntax
- NM_198578.4:c.4322G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002019
- ClinVar Disease
- Autosomal dominant Parkinson disease 8
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16172858
- Pubmed
- 17060595
- Pubmed
- 16157909
Drugs