IthaID: 4115
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 45.2 kb deletion | HGVS Name: | NC_000016.10:g.171252_216415del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 45.2 kb within the α-globin gene cluster, extending from a region upstream of HBA2 to exon 5 of the LUC7L gene. This deletion removes both the HBA2 and HBA1 genes. Initially identified via MLPA, its breakpoints were precisely characterized using SMRT sequencing. It was identified in a heterozygous state, associated with a classical α-thalassemia trait.
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: | 32115 |
| Size: | 45.164 kb |
| Deletion involves: | 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
- Zhong Z, Chen D, Guan Z, Zhong G, Wu Z, Chen J, Chen J, A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China., Pract Lab Med, 42(0), e00438, 2024 PubMed
Created on 2024-11-20 13:24:07,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-11-20 13:24:07 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2025-01-20 08:58:57