IthaID: 3142
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α6.3 | HGVS Name: | NG_000006.1:g.31022_37366del6344 |
| 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 6.3 kb on the α-globin gene cluster and involves deletion of the HBA2 gene, causing deficient α-globin production. The breakpoints were at 2,754 bp upstream of the α1-globin gene translation initiation codon and 2,903 bp downstream of the α1-globin gene translation termination codon.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 6.344 kb |
| 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
- Wang XY, Lin MX, Lin M, A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α(+)-Thalassemia in two Chinese Patients., Hemoglobin , 40(5), 365-368, 2016
Created on 2017-01-17 11:28:36,
Last reviewed on 2017-01-17 11:33:25 (Show full history)
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