IthaID: 284
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 468 bp deletion | HGVS Name: | NG_000007.3:g.70070_70537del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 468 bp deletion in the β-globin gene promoter, leaving intact the β-globin structural gene from position -7 upstream from the Cap site. Reported in literature as NG_000007.3:g.70068_70535del, which does not follow 3’rule of the HGVS Sequence Variant Nomeclature recommendations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 70070 |
| Size: | 468 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | African |
| 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
- Kueviakoe I, Gerard N, Krishnamoorthy R, Pereira S, Elion J, Ducrocq R, A new high A2-beta-thalassemia due to a 468 bp deletion (-475 to -8) in the beta-globin gene promoter of the intact beta-globin structural gene., Hemoglobin, 28(1), 69-72, 2004 PubMed
- Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-04-30 12:06:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-01-15 12:16:51 | The IthaGenes Curation Team | Reviewed. Reference added |
| 4 | 2021-03-19 12:30:50 | The IthaGenes Curation Team | Reviewed. HGVS name and chromosome corrected. Origin added. |
| 5 | 2022-01-24 09:29:27 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Comment added. |
| 6 | 2024-04-30 12:06:09 | The IthaGenes Curation Team | Reviewed. Comment edited. |
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IthaGenes was last updated on 2024-12-03 11:48:06