IthaID: 345
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;Init CD ATG>GTG | HGVS Name: | NG_000006.1:g.[33776A>G;34247_38050del] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Inititiation codon ATG>GTG change found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.
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: | 33776 or 34247 |
| Size: | 1 bp or 3.804 kb |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| 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 2024-03-08 10:46:52 (Show full history)
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