Variant #0000003732 (NC_000001.10:g.20971155G>A, PINK1(NM_032409.2):c.949G>A)
Individual ID |
00003732 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.20971155G>A |
Reference |
Abou-Sleiman PM, 2006;Marongiu R, 2008;GelMti V, 2008 |
DB-ID |
PINK1_000125 |
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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