IthaID: 4168
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -ζ10.7 kb | HGVS Name: | NC_000016.10:g.154355_165114del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Nanning deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 31-year-old female presenting with normal haematological parameters. Third-generation sequencing revealed a 10.7 kb deletion along with a homozygous point mutation (NG_000006.1:g.30717T>C; rs2258435) in the upstream region of HBA2 gene. The deletion is located within the HBZ and HBZP1 genes and is associated with a silent carrier phenotype.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 15218 |
| Size: | 10.759 kb |
| Deletion involves: | ζ |
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
- Li Y, Zheng L, Liang L, Zheng Y, Bai J, Identification of a novel 10.7 kb deletion (Nanning deletion; -ζ) in a Chinese female., Mol Biol Rep, 53(1), 4, 2025
Created on 2025-11-20 09:56:59,
Last reviewed on 2025-11-21 06:50:35 (Show full history)
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