Full data view for gene PARK2

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.? Unknown - pathogenic g.(161970036_161990386)_(161990449_162206803)dup g.(161549004_161569355)_(161569417_161785773)dup c.872-?_933+?dup - PARK2_000073 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.? Unknown - pathogenic g.(161970036_161990386)_(161990449_162206803)dup g.(161549004_161569355)_(161569417_161785773)dup c.872-?_933+?dup - PARK2_000073 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
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