Variant #0000696645 (NC_000006.11:g.(162475207_162622163)_(162683798_162864342)dup, PARK2(NM_004562.2):c.(171+1_172-1)_(534+1_535-1)dup)

Individual ID 00313565
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.(162475207_162622163)_(162683798_162864342)dup
DNA change (hg38) g.(162054175_162201131)_(162262766_162443310)dup
Published as c.172-?_534+?dup
ISCN -
DB-ID PARK2_000077
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 +/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314737 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele