Variant #0000131424 (NC_000001.10:g.12726307C>T, NM_001013630.1:c.785delCinsT (AADACL4))
Chromosome |
1 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12726307C>T |
DB-ID |
- |
dbSNP ID |
rs778451914 |
gnomAD frequency |
1/245900 |
gnomAD homozygote count |
0/122948 |
Average frequency (gnomAD v.2.1.1) |
0 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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