Variant #0000696551 (NC_000006.11:g.163148721C>A, PARK2(NM_004562.2):c.-21G>T)

Individual ID 00313472
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.163148721C>A
DNA change (hg38) g.162727689C>A
Published as -
ISCN -
DB-ID PARK2_000001
Variant remarks -
Reference PubMed: Hedrich 2002
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 c.-21G>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314644 DNA SEQ - - PARK2 1 The Parkinson's Institute - Birgitt Schuele