Variant #0000696652 (NC_000006.11:g.(162683798_162864341)_(162864506_163148693)del, PARK2(NM_004562.2):c.(7+1_8-1)_(171+1_172-1)del)

Individual ID 00313572
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.(162683798_162864341)_(162864506_163148693)del
DNA change (hg38) g.(162262766_162443310)_(162443474_162727662)del
Published as c.8-?_171+?del
ISCN -
DB-ID PARK2_000082 See all 4 reported entries
Variant remarks -
Reference PubMed: Lucking 2000
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)_(171+1_172-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314744 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele