Variant #0002109067 (NC_000017.10:g.67280184T>C, NM_172232.2:c.2302A>G (ABCA5))
Individual ID |
00000066 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.67280184T>C |
Reference |
- |
DB-ID |
ABCA5_000026 See all 3 reported entries |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
0.00422 View details |
Owner |
LOVD |
Database submission license |
No license selected |
Created by |
LOVD |
Date created |
2016-08-25 07:16:32 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
|