All variants in the PARK2 gene

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_004562.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 2 c.156dup r.(?) p.(Asp53*) - pathogenic g.162864357dup g.162443325dup 156_157insT - PARK2_000111 - PubMed: de Cavalho Aguiar 2008 - - Germline - 2/72 EOPD, 0/81ctrl - 0 - The Parkinson's Institute - Birgitt Schuele
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