Variant #0000003698 (NC_000001.10:g.20975021G>A, PINK1(NM_032409.2):c.1147G>A)
Individual ID |
00003698 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.20975021G>A |
Reference |
Ibá?ez P, 2006;Abou-Sleiman PM, 2006;Marongiu R, 2008 |
DB-ID |
PINK1_000091 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.00028 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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