Variant #0000000242 (NC_000011.10:g.66258_184734del118477, NM_000518.4:c.*5040864_*5159340del118477 (HBB))
Individual ID |
00000053 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.66258_184734del118477 |
Published as |
Filipino (~45 kb deletion) |
Reference |
Y C Wee et al. (2008) |
DB-ID |
HBB_000025 See all 28 reported entries |
dbSNP ID |
- |
Frequency |
25/322 |
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 |
2020-10-15 12:25:53 +08:00 (CST) |
Date last edited |
2020-11-05 15:07:12 +08:00 (CST) |

Variant on transcripts
Screenings
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