Variant #0000696690 (NC_000006.11:g.(162864506_163148693)_(163148825_?)dup, PARK2(NM_004562.2):c.-125_(7+1_8-1){2})

Individual ID 00313610
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.(162864506_163148693)_(163148825_?)dup
DNA change (hg38) g.(162262766_162443310)_(162727793_?)dup
Published as ex1 dupl
ISCN -
DB-ID PARK2_000107
Variant remarks -
Reference PubMed: Sun 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/252ctrl chromosomes
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_1i c.-125_(7+1_8-1){2} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314782 DNA PCRq - - PARK2 1 The Parkinson's Institute - Birgitt Schuele