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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-04-30 12:06:09 (Show full history)
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