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     
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)dup g.(161973418_162054090)_(162054175_162201131)dup c.535-?_618+?dup - PARK2_000070 - PubMed: Hedrich 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hedrich 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)dup g.(161973418_162054090)_(162054175_162201131)dup c.535-?_618+?dup - PARK2_000070 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
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