IthaID: 3711
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | (αα)YD | HGVS Name: | NC_000016.10:g.94096_147948del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The novel deletion found in a heterozygous causing mild thalassaemia. Also found in combination with the Hb Constant Spring [IthaID: 418], leading to Hb H disease. The deletion affects the major regulatory element HS-40.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | N/A |
Size: | 53.854 kb |
Deletion involves: | HS40 |
Other details
Type of Mutation: | Deletion |
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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
- Fan Jiang, Li-Li Xu, Xue-Wei Tang, Dong-Zhi Li, A novel deletion of the major regulatory element flanking the α-globin gene cluster as a cause of α 0 -thalassemia, Int J Lab Hematol ., 43(4), 0, 2021 PubMed
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Jiang, Fan | 2021-01-14 | First report. |
Created on 2021-01-14 13:52:22,
Last reviewed on 2022-09-22 11:30:04 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-01-14 13:52:22 | The IthaGenes Curation Team | Created |
2 | 2021-04-19 11:01:52 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
3 | 2021-11-30 16:00:00 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
4 | 2022-01-04 12:45:34 | The IthaGenes Curation Team | Reviewed. Common name corrected. Reference added. |
5 | 2022-01-04 13:21:00 | The IthaGenes Curation Team | Reviewed. Size corrected. |
6 | 2022-09-22 11:30:04 | The IthaGenes Curation Team | Reviewed. Comment edit. |
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IthaGenes was last updated on 2024-10-30 08:58:42