IthaID: 3214
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 44.6 kb deletion | HGVS Name: | NC_000016.10:g.144215_188841del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 44.6 kb on the α-globin gene cluster removing both of the duplicated α-globin genes, while the upstream regulatory element HS-40 is left intact. Breakpoints were localized to positions 193637-199336 at the 5' end, and positions 237170-256305 at the 3’ end (hg19) using MLPA. Deletion breakpoints were determined by array comparative genomic hybridization.
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: | Haemolytic anaemia [HP:0001878] |
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
- Wang Y, Liu C, Zhang L, Du L, Zhou W, Huang S, Liu L, Yin A, Identification of a novel 44.6-kb deletion causing α(0) -thalassemia in southern China., Int J Lab Hematol , 2017 PubMed
Created on 2017-03-28 16:19:33,
Last reviewed on 2023-02-07 11:58:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-03-28 16:19:33 | The IthaGenes Curation Team | Created |
| 2 | 2017-03-28 16:25:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-03-17 15:50:34 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Chromosome and locus location added. |
| 4 | 2023-02-07 11:58:11 | The IthaGenes Curation Team | Reviewed. Comment edits. |
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IthaGenes was last updated on 2024-10-29 15:59:14