Variant #0000002724 (NC_000001.11:g.17194G>C, PINK1(NM_032409.3):c.1048G>C)
Individual ID |
00000617 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.17194G>C |
Published as |
- |
Reference |
Shen Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf |
DB-ID |
PINK1_000001 |
dbSNP ID |
rs764648391 |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nur Aisyah Athirah |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nur Aisyah Athirah |
Variant on transcripts
Screenings
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