Individual #00313563

ID_report -
Reference PubMed: Foroud 2003
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PARK
Owner name The Parkinson's Institute - Birgitt Schuele
Database submission license No license selected
Created by The Parkinson's Institute - Birgitt Schuele


Phenotypes

Parkinson disease (PARK) (PARK)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000237884 early onset Parkinsons disease - - - - - - - The Parkinson's Institute - Birgitt Schuele



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314735 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
6 Unknown +/+ - pathogenic g.(161781238_161807826)_(161807910_161969888)dup g.(161360206_161386794)_(161386878_161548856)dup c.1084-?_1167+?dup - PARK2_000075 - PubMed: Foroud 2003 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele PARK2 - - - - - 9i_10i NM_004562.2:c.(1083+1_1084-1)_(1167+1_1168-1)dup - r.? p.? - - - - - - - - - - - - - - - - - - - -
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