IthaID: 2554
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α28.5 | HGVS Name: | NG_000006.1g.7065_35627del28563 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion breakpoint fragment involved Alu repeat sequences, suggesting a homologous recombination event. Phenotypic analysis on the heterozygous carrier of this deletion revealed that it leads to a very mild phenotype. Location: NT_010393.16 from 136211 to 164774
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: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 7065 |
| Size: | 28.563 kb |
| Deletion involves: | ζ, α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yu J, Xie J, Luo L, Li Z, An Alu element-mediated 28.5 kb α-thalassemia deletion found in a Chinese family., Hemoglobin , 38(6), 427-30, 2014
Created on 2015-06-16 16:03:06,
Last reviewed on 2015-06-16 16:16:34 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.