Variant #0000000801 (NC_000011.10:g.5227147G>A, HBB(NM_000518.4):c.-126C>T)
Individual ID |
00000163 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5227147G>A |
Published as |
-76 C>T |
Reference |
|
DB-ID |
HBB_000052 |
dbSNP ID |
- |
Frequency |
2 |
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 |
Variant on transcripts
Screenings
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