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
not provided
Source Database
ClinVar
Description
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) AND not provided
ClinVar Allele ID
47770
ClinVar RefSeq Alternation Syntax
NM_198578.4:c.3342A>G
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2023-10-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000875282
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs