IthaID: 2263
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α-ZF | HGVS Name: | NC_000016.10:g.174046_192396del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The ~18 kb deletion removes the HBA1 and HBQ1 genes leaving intact the HBA2 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 |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34909 |
| Size: | 18.35 kb |
| Deletion involves: | α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | N/A |
| 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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Indrak K, Gu YC, Novotny J, Huisman TH, A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote., Am. J. Hematol. , 43(2), 144-5, 1993 PubMed
- Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR, Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease., Nat. Genet. , 34(2), 157-65, 2003 PubMed
Created on 2013-10-03 18:35:37,
Last reviewed on 2021-06-25 13:46:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 18:35:37 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-06-25 13:46:58 | The IthaGenes Curation Team | Reviewed. HGVS name, comment, chromosome and locus location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07