Variant #0000696714 (NC_000006.11:g.(162475207_162622162)_(163148825_?)del, PARK2(NM_004562.2):c.-125_(534+1_535-1){0})

Individual ID 00313631
Chromosome 6
Allele Parent #1
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_162622162)_(163148825_?)del
DNA change (hg38) g.(162054175_162201131)_(162727793_?)del
Published as c.(?_-103)_534+?del
ISCN -
DB-ID PARK2_000135
Variant remarks -
Reference PubMed: Chung 2008
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 +/+ _1_4i c.-125_(534+1_535-1){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314803 DNA MLPA - - PARK2 2 The Parkinson's Institute - Birgitt Schuele