IthaID: 3822
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --227 | HGVS Name: | NC_000016.10:g.35880_(262740_268502)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a pregnant woman and her fetus. The deletion contains 11 genes, including the entire a-globin gene cluster (HBZ, HBM, HBA2, HBA1, and HBQ) and its regulatory region. The 5’ breakpoint includes the POLR3K gene while the 3’ breakpoint includes the FAM234A gene.
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 |
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
- Wang Y, Xiong Y, Liu C, Lu J, Wang J, Qin D, Liu L, Wu J, Zhao X, Fang L, Du L, Yin A, Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions., J Int Med Res, 49(2), 300060521993642, 2021 PubMed
Created on 2021-07-16 09:54:00,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-07-16 09:54:00 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-10-29 15:59:14