IthaID: 4066
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 10.8 kb deletion | HGVS Name: | NC_000011.10:g.5216601_5227407del |
| 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 10.8 kb on the beta-globin gene locus removing the whole HBB gene. Deletion breakpoints were determined by long-read sequencing and were confirmed by MLPA and GapPCR methods. Heterozygosity occurs with beta-thalassemia minor.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70209 |
| Size: | 10.807 kb |
| Deletion involves: | β |
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
- Shao M, Wan Y, Cao W, Yang J, Cui D, Ma M, Hu W, Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results., Front Med (Lausanne), 10(0), 1192279, 2023
Created on 2023-08-04 12:08:13,
Last reviewed on 2024-02-09 13:21:19 (Show full history)
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