Variant #0001408887 (NC_000002.11:g.27351332G>A, NM_013388.4:c.*2950C>T (PREB))
Chromosome |
2 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.27351332G>A |
DB-ID |
- |
dbSNP ID |
rs748621199 |
gnomAD frequency |
10/246206 |
gnomAD homozygote count |
0/123092 |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Database submission license |
No license selected |
Created by |
LOVD |
Date created |
2017-02-27 00:00:00 +01:00 (CET) |
Date last edited |
N/A |
Variant on transcripts
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