Variant #0004850802 (NC_000007.13:g.20666251_20666252del, NC_000007.13(NM_001163941.1):c.108+17_108+18del (ABCB5))
Chromosome |
7 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.20666251_20666252del |
DB-ID |
- |
dbSNP ID |
rs746232251 |
gnomAD frequency |
1/216382 |
gnomAD homozygote count |
0/108189 |
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 |
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Variant on transcripts
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