Variant #0000001258 (NC_000023.11:g.48791329G>A, NM_002049.3:c.220G>A (GATA1))
Individual ID |
00000248 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.48791329G>A |
Published as |
- |
Reference |
Su Han Lum et al. (2016) |
DB-ID |
GATA1_000013 |
dbSNP ID |
rs768438726 |
Frequency |
1/9 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nuur Athirah Binti Mohd Daud |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Date created |
2020-12-13 17:02:32 +08:00 (CST) |
Date last edited |
2021-09-13 11:55:47 +08:00 (CST) |

Variant on transcripts
Screenings
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