IthaID: 3072
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 125 bp deletion | HGVS Name: | NG_000006.1: g.37040_37164del |
Also known as:
Comments: The deleted 125 bp are part of the α1 gene promoter region. It is an intergenic α2-α1 non-coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact. The patient presented with normal haematological indices.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37040 |
| Size: | 125 bp |
| Deletion involves: | α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Kabyles, Northern Algeria |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Singh AR, Lacan P, Cadet E, Bignet P, Dumesnil C, Vannier JP, Joly P, Rochette J, A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population., Hemoglobin , 40(2), 108-12, 2016
Created on 2016-09-06 18:24:32,
Last reviewed on 2016-09-07 10:32:30 (Show full history)
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