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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.167T>A r.(?) p.(Val56Glu) - pathogenic g.162864346A>T - PRKN(NM_004562.2):c.167T>A (p.V56E) - PARK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.167T>A r.(?) p.(Val56Glu) - VUS g.162864346A>T g.162443314A>T - - PARK2_000014 - PubMed: Hoenicka 2002 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele
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