Variant #0001148444 (NC_000017.10:g.79108318T>C, NM_004920.2:c.-2737A>G (AATK))
Individual ID |
00000047 |
Chromosome |
17 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.79108318T>C |
Reference |
- |
DB-ID |
AATK_000036 See all 8 reported entries |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
0.22829 View details |
Owner |
LOVD |
Database submission license |
No license selected |
Created by |
LOVD |
Date created |
2016-08-24 22:42:41 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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