IthaID: 2153
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Kabylia deletion/insertion | HGVS Name: | NG_000007.3:g.70417_72458delinsATAAG |
| Hb Name: | N/A | Protein Info: | β nts -8536 - -6497 deleted |
Also known as:
Comments: Found in a heterozygous state in a female originating from Kabylia (Algeria) and presenting with high levels of HbA2 (6.5%) and HbF (7.5%). The deletion spans approximately 2040 bp and removes the entire β-globin gene and its promoter. A 5 bp insertion (ATAAG) is detected in the deletion junction.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70417 |
| Size: | 2.04 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Algerian |
| 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
- Joly P, Lacan P, Garcia C, Couprie N, Francina A, Identification and molecular characterization of four new large deletions in the beta-globin gene cluster., Blood Cells Mol. Dis. , 43(1), 53-7, 2009 PubMed
Created on 2013-09-28 18:28:24,
Last reviewed on 2019-11-14 10:21:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-28 18:28:24 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 12:20:37 | The IthaGenes Curation Team | Reviewed. Mutation type corrected. Comment added. |
| 4 | 2019-11-14 10:06:01 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Comment and Location info added. |
| 5 | 2019-11-14 10:07:02 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2019-11-14 10:11:18 | The IthaGenes Curation Team | Reviewed. Comment edited. |
| 7 | 2019-11-14 10:21:35 | The IthaGenes Curation Team | Reviewed. Edits. |
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IthaGenes was last updated on 2024-11-20 13:24:07