Individual #00313630

ID_report -
Reference PubMed: Chung 2006
Remarks no family history
Gender -
Consanguinity -
Country Korea
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     
0000237951 early onset Parkinsons disease - - - - - 20y - The Parkinson's Institute - Birgitt Schuele



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314802 DNA SEQ - - PARK2 2 The Parkinson's Institute - Birgitt Schuele



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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 Parent #2 +/+ - pathogenic g.(161990449_162206803)_(162206941_162394333)del g.(161569417_161785773)_(161785909_161973302)del Ex7del - PARK2_000087 - PubMed: Chung 2006 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele PARK2 - - - - - 6i_7i NM_004562.2:c.(734+1_735-1)_(871+1_872-1)del - r.? p.? - - - - - - - - - - - - - - - - - - - -
6 Parent #1 +/+ - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - PubMed: Chung 2006 - - Germline - - - 0 - The Parkinson's Institute - Birgitt Schuele PARK2 - - - - - 1i_3i NM_004562.2:c.(7+1_8-1)_(171+1_172-1)del - r.? p.? - - - - - - - - - - - - - - - - - - - -
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