Variant #0000003870 (NC_000011.10:g.5226763_5226766del, HBB(NM_000518.4):c.126_129del)
Individual ID |
00001110 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5226763_5226766del |
Published as |
- |
Reference |
Saad HKM et al. (2023) |
DB-ID |
HBB_000070 |
dbSNP ID |
- |
Frequency |
21/65 (32.3%) |
Variant remarks |
This variant is compound with the variant Cd 26 (GAG>AAG) HbE (βE). Out of the 65 HbE/β-thalassaemia patients, 61 showed heterozygous mutations and 4 showed homozygous mutations |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
MyHVP |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
MyHVP |
Variant on transcripts
Screenings
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