Variant #0000003763 (NC_000001.10:g.20960418A>C, PINK1(NM_032409.2):c.377A>C)
Individual ID |
00003763 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.20960418A>C |
Reference |
Scornaienchi V, Civitelli D, De Marco EV, Annesi G, Tarantino P, Rocca FE, Greco V, Provenzano G, Annesi F, Nicoletti G, Colica C, Uncini A, Salsone M, (2012) |
DB-ID |
PINK1_000016 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-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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