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
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To the best of our knowledge, this is unpublished data.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)
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