Variant #0000003474 (NC_000006.11:g.162394435T>A, PARK2(NM_004562.2):c.633A>T)
Individual ID |
00003474 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.162394435T>A |
Reference |
van de Warrenburg BP, 2001;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Klein C, 2005;Hertz JM, 2006;Aguiar P de C, 2008;Barsottini OG, 2009;Pankratz N, 2009 |
DB-ID |
PARK2_000030 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|