IthaID: 3622
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --71.8 (71.8 Kb deletion) | HGVS Name: | NC_000016.10:g.138971_210817del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a 6-months infant boy and his father presented with homogeneous microcytic hypochromic anemia and decrease MCV, MVH and HbA2 level. The proband characterized by neonatal high Hb Bart’s (γ4) level (3.8%). The 72 Kb deletion removed both α-globin genes and also the HBZ, HBQ and part of the LUC7L 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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 72.846 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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
- Xu ML, Qin JC, Chen BY, Yang XX, Liu HP, Yuan WX, Zhong JM, Huang LM, Zhou WJ, Characterization of a Novel 71.8 kb α-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis., Hemoglobin, 2020 PubMed
Created on 2020-09-08 11:00:01,
Last reviewed on 2020-09-08 11:00:38 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-09-08 11:00:01 | The IthaGenes Curation Team | Created |
| 2 | 2020-09-08 11:00:38 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07