IthaID: 345
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Init CD ATG>GTG | HGVS Name: | HBA2:c.1A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in the context of a −α3.7 thalassemia chromosome.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | α3.7 hybrid |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Initiation codon (Translation) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH, An alpha-globin gene initiation codon mutation in a black family with HbH disease., Blood, 70(3), 729-32, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-10-02 10:44:33 (Show full history)
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