IthaID: 2479
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Toledo | HGVS Name: | NG_000007.3:g.11835_13826del |
| Hb Name: | N/A | Protein Info: | β nts range (-58711 - -56718) |
Also known as: 1992 bp deletion
Comments: The deletion exclusively affects only the HS3 element of the βLCR. Found in a male presented with very mild microcytosis, indicating that HS3 deletion does not severely impair the β-gene expression.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 11835 |
| Size: | 1.992 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nieto JM, Villegas A, De La Fuente-Gonzalo F, González FA, Ropero P, Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype., J Hum Genet, 59(10), 585-7, 2014
Created on 2014-06-04 09:49:02,
Last reviewed on 2022-05-26 15:06:09 (Show full history)
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