Variant #0000003456 (NC_000006.11:g.162394349G>A, PARK2(NM_004562.2):c.719C>T)
Individual ID |
00003456 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.162394349G>A |
Reference |
Foroud T, 2003;Periquet M, 2003;Madegowda RH, 2005;Schlitter AM, 2006;Deng H, 2006;Bras J, 2008;Sironi F, 2008;Amboni M, 2009;CamRos ST, 2009;Pankratz N, 2009 |
DB-ID |
PARK2_000013 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00038 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|