Variant #0000003546 (NC_000006.11:g.162864388C>G, PARK2(NM_004562.2):c.125G>C)
Individual ID |
00003546 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.162864388C>G |
Reference |
Terreni L, 2001;Hedrich K, 2002;Bertoli-Avella AM, 2005;Clark LN, 2006;Pellecchia MT, 2007;Wang Y, 2008;Sironi F, 2008;Macedo MG, 2009 |
DB-ID |
PARK2_000098 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-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
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