Variant #0000000998 (NC_000020.10:g.4680429C>G, PRNP(NM_000311.3):c.563C>G)
Individual ID |
00000998 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.4680429C>G |
Reference |
Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010) |
DB-ID |
PRNP_000013 See all 2 reported entries |
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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