Gene HBA1 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: HBA1
Disorder: Haemoglobin variant
Allele Frequency: 0.0142379
Carrier Rate: 0.0280703
Max At-Risk Couples rate: 0.000787941
The table below lists all clinically relevant variants identified in the HBA1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 14 |
226775 |
HBA1 |
NM_000558.5:c.60delG |
NP_000549.1:p.His21Thrfs*29 |
17 |
0.007119% |
| 15 |
226808 |
HBA1 |
NM_000558.5:c.95+2_95+6delTGAGG |
|
16 |
0.0067% |
| 487 |
226758 |
HBA1 |
NM_000558.5:c.43T>C |
NP_000549.1:p.Trp15Arg |
1 |
0.000419% |
