Variant #0002135817 (NC_000002.11:g.220088694C>T, NM_005689.2:c.-5299G>A (ABCB6))
Chromosome |
2 |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.220088694C>T |
DB-ID |
- |
dbSNP ID |
rs199900351 |
gnomAD frequency |
34/245404 |
gnomAD homozygote count |
0/122668 |
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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