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
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
- 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 PubMed
Created on 2014-06-04 09:49:02,
Last reviewed on 2022-05-26 15:06:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-04 09:49:02 | The IthaGenes Curation Team | Created |
| 2 | 2014-06-04 09:50:29 | The IthaGenes Curation Team | Reviewed. Detection method added. |
| 3 | 2022-02-02 11:16:00 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 4 | 2022-05-26 15:03:30 | The IthaGenes Curation Team | Reviewed. Functionality and common name corrected. Reference added. |
| 5 | 2022-05-26 15:06:09 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07