IthaID: 4113
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 119-121 (+8 bp) | HGVS Name: | HBB:c.358_365dup |
| Hb Name: | Hb Nanjing | Protein Info: | N/A |
Also known as:
Comments: The c.358_365dup frameshift variant in the HBB gene (p.Phe123Alafs*39) was initially reported as a de novo mutation, confirmed through parental testing, in a Chinese individual exhibiting a dominant beta thalassemia phenotype. This frameshift is predicted to produce an abnormally extended β-globin chain with 159 amino acid residues.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Dominant |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71932 |
| Size: | 8 bp |
| Located at: | β |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J, A Novel Frameshift Mutation of Causing Dominant β-Thalassemia in a Chinese Individual., Hemoglobin, 48(3), 182-185, 2024
Created on 2024-10-30 08:27:47,
Last reviewed on 2024-10-30 08:58:42 (Show full history)
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