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     
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162394450_162475122)dup g.(161785909_161973302)_(161973418_162054090)dup c.619-?_734+?dup - PARK2_000071 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162394450_162475122)dup g.(161785909_161973302)_(161973418_162054090)dup c.619-?_734+?dup - PARK2_000071 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
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