IthaID: 3514
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 170 kb deletion | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a four-generation autochthonous Belgian family consisting of six individuals diagnosed with alpha-thal trait. The deletion spans approximately 170 kb and is located between ~0.2 Mb and ~0.4 Mb from the telomere of 16p, leaving the subtelomeric region intact but removing both α-globin genes, HBA2 and HBA1, as well as HBQ1, LUC7L, ITFG3, RGS11, ARHGDIG, PDIA2 and AXIN1 genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 170 kb |
| Deletion involves: | α2, α1, AXIN1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Belgian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
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
- Heireman L, Luyckx A, Schynkel K, Dheedene A, Delaunoy M, Adam AS, Gulbis B, Dierick J, Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family., Hemoglobin, 43(2), 112-115, 2019 PubMed
Created on 2019-12-03 16:12:26,
Last reviewed on 2019-12-03 16:46:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-12-03 16:12:26 | The IthaGenes Curation Team | Created |
| 2 | 2019-12-03 16:22:22 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-12-03 16:46:19 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-12-03 16:46:58 | The IthaGenes Curation Team | Reviewed. Comment edits. |
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IthaGenes was last updated on 2024-04-18 10:10:45