IthaID: 4073
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)FJ | HGVS Name: | NC_000016.10:g.39268_130758del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: --FJ
Comments: The deletion is about 91.5-kb in length and removes the HS40 regulatory element of the α-globin gene cluster. The proband carried this deletion in the heterozygous state and presented with mild microcytic hypochromic anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 91.5 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Xu L, Chen M, Zheng J, Zhang S, Zhang M, Chen L, He Q, Guo D, Lin N, Huang H, Identification of a novel 91.5 kb-deletion (αα) in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing., J Matern Fetal Neonatal Med, 36(2), 2254890, 2023 PubMed
Created on 2023-10-02 16:54:26,
Last reviewed on 2024-02-12 12:48:01 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-10-02 16:54:26 | The IthaGenes Curation Team | Created |
| 2 | 2024-02-12 12:48:01 | The IthaGenes Curation Team | Reviewed. Locus location deleted. |
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IthaGenes was last updated on 2024-11-20 13:24:07