IthaID: 3074
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)JX | HGVS Name: | NC_000016.10:g.113161_113902del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 742-bp deletion of the upstream of the α-cluster removes the MCS-R2 (ΗS-40) element containing several transcription factor binding sites, e.g.: GATA-1 and AP-1/NF-E2.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 742 bp |
| Deletion involves: | HS40 |
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
- Wu MY, He Y, Yan JM, Li DZ, A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia., Br. J. Haematol. , 2016
Created on 2016-09-08 17:09:36,
Last reviewed on 2016-09-08 17:49:35 (Show full history)
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