IthaID: 2554
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α28.5 | HGVS Name: | NG_000006.1g.7065_35627del28563 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion breakpoint fragment involved Alu repeat sequences, suggesting a homologous recombination event. Phenotypic analysis on the heterozygous carrier of this deletion revealed that it leads to a very mild phenotype. Location: NT_010393.16 from 136211 to 164774
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: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 7065 |
| Size: | 28.563 kb |
| Deletion involves: | ζ, α2 |
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
- Yu J, Xie J, Luo L, Li Z, An Alu element-mediated 28.5 kb α-thalassemia deletion found in a Chinese family., Hemoglobin , 38(6), 427-30, 2014 PubMed
Created on 2015-06-16 16:03:06,
Last reviewed on 2015-06-16 16:16:34 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-06-16 16:03:06 | The IthaGenes Curation Team | Created |
| 2 | 2015-06-16 16:10:54 | The IthaGenes Curation Team | Reviewed. Location corrected. |
| 3 | 2015-06-16 16:16:34 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07