IthaID: 3067
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --MEX1 | HGVS Name: | NG_000006.1:g.3(33114_33812)_(40649_42021)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: This deletion spans between 6.8 to 8.9 kb. Breakpoints were localized to positions 162250-162948 at the 5' end, and positions 169785-171157 at the 3’ end.
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: | 8.9 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mexican |
| 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
- de-la-Cruz-Salcedo EI, Ibarra B, Rizo-de-la-Torre LC, Sánchez-López JY, González-Mercado A, Harteveld CL, Perea-Díaz FJ, Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha(0) -thalassemia deletions - -(Mex1) and - -(Mex2)., Int J Lab Hematol , 2016 PubMed
Created on 2016-09-06 14:52:19,
Last reviewed on 2016-09-07 11:11:34 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 14:52:19 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-06 14:56:20 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-06 14:58:43 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-07 11:11:34 | The IthaGenes Curation Team | Reviewed. Gene information updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07