IthaID: 4095
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | --Guigang (145 kb deletion) | HGVS Name: | NC_000016.10:g.127815_273190del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 145 kb deletion found in a Chinese (Guigang) boy by third-generation sequencing on the α-globin chain and its breakpoints were confirmed by Sanger sequencing analysis. Capillary electrophoresis of the cord blood showed high Hb Bart’s (γ4) level (3%). The large deletion removed the entire α-globin locus and expand from NPRL3 to RGS11 genes.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
---|---|
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Guo J, Li T, Liang L, Wei W, Li Y, Guo W, Li Y, Identification of a novel 145 kb deletion (Guigang deletion, -) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing., Hematology, 29(1), 2412949, 2024 PubMed
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Li, Youqiong | 2024-03-27 | First report. |
Created on 2024-03-28 09:17:36,
Last reviewed on 2024-11-18 12:44:42 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.