Variant #0000696691 (NC_000006.11:g.162864461C>T, PARK2(NM_004562.2):c.52G>A)

Individual ID 00313611
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864461C>T
DNA change (hg38) g.162443429C>T
Published as -
ISCN -
DB-ID PARK2_000134
Variant remarks -
Reference PubMed: Annesi 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 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.52G>A r.(?) p.(Asp18Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314783 DNA SEQ - - PARK2 1 The Parkinson's Institute - Birgitt Schuele