Variant #0000000798 (NC_000011.10:g.5227045G>C, NM_000518.4:c.-24C>G (HBB))
Individual ID |
00000162 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5227045G>C |
Published as |
CAP +27 (C>G) |
Reference |
|
DB-ID |
HBB_000050 |
dbSNP ID |
rs374054030 |
Frequency |
1 |
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 |
2020-11-19 14:53:32 +08:00 (CST) |
Date last edited |
2021-09-09 11:49:34 +08:00 (CST) |

Variant on transcripts
Screenings
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