Variant #0001653595 (NC_000017.10:g.66873743G>A, NM_007168.2:c.3996C>T (ABCA8))
Individual ID |
00000057 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.66873743G>A |
Reference |
- |
DB-ID |
ABCA8_000043 See all 5 reported entries |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
0.12464 View details |
Owner |
LOVD |
Database submission license |
No license selected |
Created by |
LOVD |
Date created |
2016-08-25 03:15:45 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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