Variant #0000696642 (NC_000006.11:g.(161807910_161969885)_(161970036_161990386)dup, PARK2(NM_004562.2):c.(933+1_934-1)_(1083+1_1084-1)dup)

Individual ID 00313562
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(161807910_161969885)_(161970036_161990386)dup
DNA change (hg38) g.(161386878_161548856)_(161549004_161569355)dup
Published as c.934-?_1083+?dup
ISCN -
DB-ID PARK2_000074
Variant remarks -
Reference PubMed: Kann 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner The Parkinson's Institute - Birgitt Schuele
Database submission license No license selected
Created by The Parkinson's Institute - Birgitt Schuele
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +/+ 8i_9i c.(933+1_934-1)_(1083+1_1084-1)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314734 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele