Variant #0000696669 (NC_000006.11:g.(161807910_161969888)_(162683798_162864342)del, PARK2(NM_004562.2):c.(171+1_172-1)_(1083+1_1084-1)del)

Individual ID 00313589
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_161969888)_(162683798_162864342)del
DNA change (hg38) g.(161386878_161548856)_(162262766_162443310)del
Published as c.172-?_1083+?del
ISCN -
DB-ID PARK2_000093
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 +/+ 2i_9i c.(171+1_172-1)_(1083+1_1084-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314761 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele