Variant #0002691441 (NC_000003.11:g.111697919C>A, NM_001134437.1:c.*4509C>A (PHLDB2))
Chromosome |
3 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.111697919C>A |
DB-ID |
- |
dbSNP ID |
rs760479425 |
gnomAD frequency |
0/243894 |
gnomAD homozygote count |
0/121946 |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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