Variant #0000696648 (NC_000006.11:g.(162622285_162683556)_(162864506_163148693)dup, PARK2(NM_004562.2):c.(7+1_8-1)_(412+1_413-1)dup)

Individual ID 00313568
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.(162622285_162683556)_(162864506_163148693)dup
DNA change (hg38) g.(162201253_162262525)_(162443474_162727662)dup
Published as c.8-?_412+?dup
ISCN -
DB-ID PARK2_000079
Variant remarks -
Reference PubMed: Periquet 2003
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 +/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314740 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele