Variant #0000003513 (NC_000006.11:g.162683724G>T, PARK2(NM_004562.2):c.245C>A)
Individual ID |
00003513 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.162683724G>T |
Reference |
Hedrich K, 2001;Varrone A, 2004;Kay DM, 2007;Lesage S, 2008;H?kansson A, 2008;Sironi F, 2008;Nuytemans K, 2009;Brooks J, 2009;Pankratz N, 2009 |
DB-ID |
PARK2_000067 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00365 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|