IthaID: 2262
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --80 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | African-American |
| 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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Milner PF, Huisman TH, Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia., Br. J. Haematol. , 34(2), 207-20, 1976 PubMed
- Huisman TH, Gu LH, Liu JC, Fei YJ, Walker EL, Black alpha-thalassemia-1: partial characterization of an approximately 80 kb deletion which includes the zeta- and alpha-globin genes., Hemoglobin , 17(4), 345-53, 1993 PubMed
Created on 2013-10-03 18:26:07,
Last reviewed on 2014-06-04 10:58:12 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 18:26:07 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-04 10:58:12 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07