Gene HBB Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: HBB
Disorder: Haemoglobin variant
Allele Frequency: 0.05067
Carrier Rate: 0.0962051
Max At-Risk Couples rate: 0.00925543
The table below lists all clinically relevant variants identified in the HBB gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 4 |
5248155 |
HBB |
NM_000518.5:c.92+5G>C |
p.? |
39 |
0.016332% |
| 5 |
5248232 |
HBB |
NM_000518.5:c.20A>T |
p.Glu7Val |
37 |
0.015494% |
| 22 |
5246908 |
HBB |
NM_000518.5:c.364G>C |
NP_000509.1:p.Glu122Gln |
13 |
0.005444% |
| 29 |
5248027 |
HBB |
NM_000518.5:c.93-22_95del |
p.? |
10 |
0.004188% |
| 64 |
5247806 |
HBB |
NM_000518.5:c.315+1G>A |
|
5 |
0.002094% |
| 105 |
5246715 |
HBB |
NM_000518.5:c.*113A>G |
|
3 |
0.001256% |
| 106 |
5248226 |
HBB |
NM_000518.5:c.25_26delAA |
NP_000509.1:p.Lys9Valfs*14 |
3 |
0.001256% |
| 178 |
5248372 |
HBB |
NM_000518.5:c.-121C>T |
|
2 |
0.000838% |
| 388 |
5247871 |
HBB |
NM_000518.5:c.251delG |
NP_000509.1:p.Gly84Alafs*6 |
1 |
0.000419% |
| 389 |
5248004 |
HBB |
NM_000518.5:c.118C>T |
NP_000509.1:p.Gln40Ter |
1 |
0.000419% |
| 390 |
5248010 |
HBB |
NM_000518.5:c.112delT |
NP_000509.1:p.Trp38Glyfs*24 |
1 |
0.000419% |
| 391 |
5248158 |
HBB |
NM_000518.5:c.92+2T>C |
|
1 |
0.000419% |
| 392 |
5248159 |
HBB |
NM_000518.5:c.92+1G>A |
|
1 |
0.000419% |
| 393 |
5248160 |
HBB |
NM_000518.5:c.92G>C |
NP_000509.1:p.Arg31Thr |
1 |
0.000419% |
| 394 |
5248173 |
HBB |
NM_000518.5:c.79G>A |
NP_000509.1:p.Glu27Lys |
1 |
0.000419% |
| 395 |
5248205 |
HBB |
NM_000518.5:c.47G>A |
NP_000509.1:p.Trp16Ter |
1 |
0.000419% |
| 396 |
5248301 |
HBB |
NM_000518.5:c.-50A>C |
|
1 |
0.000419% |
