Annotation Detail

Information
Associated Genes
LRRK2
Associated Variants
LRRK2 p.Asn1437His (p.N1437H) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Asn1437His (p.N1437H) ( ENST00000298910.12, ENST00000680790.1 )
Associated Disease
Autosomal dominant Parkinson disease 8
Source Database
ClinVar
Description
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) AND Autosomal dominant Parkinson disease 8
ClinVar Allele ID
47789
ClinVar RefSeq Alternation Syntax
NM_198578.4:c.4309A>C
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000032457
ClinVar Disease
Autosomal dominant Parkinson disease 8
Observed Origin Sample
unknown
Drugs