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
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
- 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 PubMed
Created on 2017-10-02 17:55:39,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-10-02 17:55:39 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-12-12 10:33:52