IthaID: 3284
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --PG | HGVS Name: | NC_000016.10:g.93628_542759del450131 |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans about 450 kb, removing the entire α-globin gene cluster and the globin distal regulatory elements. The 5' deletion breakpoint was located just upstream of the PolR3k gene (between 91540 - 93628), and the 3' breakpoint was located within the RAB11FIP3 gene (between 536986 - 542759).
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: | No |
In silico pathogenicity prediction
Publications / Origin
- He S, Qin Q, Huang P, Zhang S, Yi S, Lin L, Zuo Y, Chen Q, Deng J, Zheng C, Chen B, Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family., Hemoglobin , 2017
Created on 2017-12-13 18:59:12,
Last reviewed on (Show full history)
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