IthaID: 3268
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 811 bp deletion | HGVS Name: | NG_000006.1:g.32945_33755 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion occurs at about 20 bases upstream of the translation initiation codon, with breakpoints localized to positions 32944-33756.
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: | 32945 |
| Size: | 811 bp |
| Deletion involves: | 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
- Zhang Q, Xu M, Zhou W, Fan X, α(+)-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases., Hemoglobin , 41(3), 185-188, 2017
Created on 2017-10-02 17:55:39,
Last reviewed on (Show full history)
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