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
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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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 PubMed
Created on 2016-09-06 18:24:32,
Last reviewed on 2016-09-07 10:32:30 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 18:24:32 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-07 10:32:30 | The IthaGenes Curation Team | Reviewed. Gene information corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45