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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The ~18 kb deletion removes the HBA1 and HBQ1 genes leaving intact the HBA2 gene.
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
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
- 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
Created on 2013-10-03 18:35:37,
Last reviewed on 2021-06-25 13:46:58 (Show full history)
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