Variant #0000696555 (NC_000006.11:g.162864416G>A, PARK2(NM_004562.2):c.97C>T)

Individual ID 00313476
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.162864416G>A
DNA change (hg38) g.162443384G>A
Published as -
ISCN -
DB-ID PARK2_000005
Variant remarks -
Reference PubMed: Maruyama 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 +/+ 2 c.97C>T r.(?) p.(Arg33*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314648 DNA SEQ - - PARK2 1 The Parkinson's Institute - Birgitt Schuele