IthaID: 2230
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7 (type II) | HGVS Name: | NG_000006.1:g.34478_38288del |
| 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: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34478 |
| Size: | 3.811 kb |
| Fusion involves: | α2, α1, α3.7 hybrid |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Southeast Asian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB, Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution., Nucleic Acids Res. , 12(18), 6965-77, 1984
- Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, Karnpean R, Fucharoen S, Molecular characteristics of α-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics., Clin Biochem, 71(0), 31-37, 2019
Created on 2013-10-03 11:12:53,
Last reviewed on 2021-06-17 13:25:00 (Show full history)
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