Variant #0000000003 (NC_000001.10:g.12739_12742del)
| Chromosome |
1 |
| Affects function (as reported) |
Not classified |
| Affects function (by curator) |
Not classified |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12739_12742del |
| DB-ID |
- |
| dbSNP ID |
- |
| gnomAD frequency |
1/16058 |
| gnomAD homozygote count |
0/8028 |
| Average frequency (gnomAD v.2.1.1) |
6.0E-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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