IthaID: 3603
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α6.9 | HGVS Name: | NG_000006.1:g.29785_36746del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 6.9 kb on the alpha-globin gene cluster, removing the α2 gene but leaving the α1 gene intact. The 5' deletion breakpoint lies in the HBAP1 gene. Deletion breakpoints were determined by MLPA and Gap-PCR analyses. Reported in a compound heterozygous state with --SEA deletion in a proband presenting with HbH disease.
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 29785 |
| Size: | 6.962 kb |
| Deletion involves: | 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
- Zhuang J, Tian J, Wei J, Zheng Y, Zhuang Q, Wang Y, Xie Q, Zeng S, Wang G, Pan Y, Jiang Y, Molecular analysis of a large novel deletion causing α-thalassemia., BMC Med. Genet., 20(1), 74, 2019 PubMed
Created on 2020-07-10 12:03:57,
Last reviewed on 2020-08-10 13:35:55 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-07-10 12:03:57 | The IthaGenes Curation Team | Created |
| 2 | 2020-07-10 12:10:53 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 3 | 2020-07-10 12:34:14 | The IthaGenes Curation Team | Reviewed. Edits. |
| 4 | 2020-08-10 13:35:55 | The IthaGenes Curation Team | Reviewed. Comment. |
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IthaGenes was last updated on 2024-10-29 15:59:14