Variant #0000001246 (NC_000023.11:g.48791329G>T, NM_002049.3:c.220G>T (GATA1))
Individual ID |
00000247 |
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>T |
Published as |
- |
Reference |
Su Han Lum et al. (2016) |
DB-ID |
GATA1_000001 |
dbSNP ID |
rs587783073 |
Frequency |
1/6 |
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 16:20:45 +08:00 (CST) |
Date last edited |
2021-09-13 12:02:58 +08:00 (CST) |

Variant on transcripts
Screenings
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