IthaID: 3284
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | --PG | HGVS Name: | NC_000016.10:g.93628_542759del450131 |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans about 450 kb, removing the entire α-globin gene cluster and the globin distal regulatory elements. The 5' deletion breakpoint was located just upstream of the PolR3k gene (between 91540 - 93628), and the 3' breakpoint was located within the RAB11FIP3 gene (between 536986 - 542759).
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: | Haemolytic anaemia [HP:0001878] |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
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
- He S, Qin Q, Huang P, Zhang S, Yi S, Lin L, Zuo Y, Chen Q, Deng J, Zheng C, Chen B, Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family., Hemoglobin , 2017 PubMed
Created on 2017-12-13 18:59:12,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-12-13 18:59:12 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-12-03 11:48:06