Variant #0000000563 (NC_000021.8:g.33036161A>G, SOD1(NM_000454.4):c.131A>G)
Individual ID |
00000563 |
Chromosome |
21 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33036161A>G |
Reference |
Rosen DR1, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al.(1993) |
DB-ID |
SOD1_000092 See all 6 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
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Variant on transcripts
Screenings
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