Variant #0000000989 (NC_000020.10:g.4680494G>A, PRNP(NM_000311.3):c.628G>A)
Individual ID |
00000989 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.4680494G>A |
Reference |
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) |
DB-ID |
PRNP_000004 See all 4 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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