Variant #0000003600 (NC_000001.10:g.8030994G>A, PARK7(NM_001123377.1):c.293G>A)
Individual ID |
00003600 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.8030994G>A |
Reference |
Abou-Sleiman PM, 2003;Lockhart PJ, 2004;Healy DG, 2004;Clark LN, 2004;Pankratz N, 2006 |
DB-ID |
PARK7_000016 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00795 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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