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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5) - PARK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5) - PARK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.101_102del r.(?) p.(Gln34Argfs*5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del 101_102delAG - PARK2_000007 - PubMed: Abbas 1999 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Abbas 1999 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
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