IthaID: 4083
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -(α)4.9 | HGVS Name: | NC_000016.10:g.172367_177259delinsG |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 4.9 Kb deletion
Comments: The deletion removes 4893 nucleotides within the α-globin gene cluster, extending from 480 bp upstream of the HBA2 gene to IVS I-126 of the HBA1 gene. Characterized by Sanger Sequencing. It can be identified using the multiplex Gap PCR method (PMID: 11439976) with α2/3.7-F and 3.7/20.5-R primers.
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: | 33230 |
| Size: | 4.893 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Malay |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Abdul Hamid, Faidatul Syazlin | 2023-11-20 | First report. |
Created on 2023-11-23 10:57:15,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-11-23 10:57:15 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02