Variant #0000131136 (NC_000001.10:g.12704778C>A, NC_000001.10(NM_001013630.1):c.168+45C>A (AADACL4))
Chromosome |
1 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12704778C>A |
DB-ID |
- |
dbSNP ID |
- |
gnomAD frequency |
2/236764 |
gnomAD homozygote count |
0/118380 |
Average frequency (gnomAD v.2.1.1) |
1.0E-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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