IthaID: 4014
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | αααα(159) | HGVS Name: | NC_000016.10:g.(63142_63147)_(222524_222529)dup |
Also known as:
Comments: The heterozygous tandem duplication region of approximately 159 kb was initially detected by NGS and its exact breakpoints were determined by PCR and Sanger sequencing between positions 63,142-63,147 (start) and 222,524-222,529 (end) (GRch38/hg38)). It includes the entire α-globin gene cluster, ranging from the RHBDF1 gene down to the LUC7L gene. The number of α globin genes is increased from four to six. It was found together with a β0 allele in a proband, a 4-year-old girl, with moderate anemia and jaundice, and a β-thalassemia intermedia diagnosis. Her mother was a heterozygous carrier for this duplication.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Allele Phenotype (Cis): | N/A |
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Allele Phenotype (Trans): | N/A |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Duplication |
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Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Zhu D, Xu L, Zhang Y, Liang G, Wei X, Li L, Jin W, Shang X, Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review., Mol Genet Genomics, 298(1), 131-141, 2023 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2023-02-07 10:28:43 | The IthaGenes Curation Team | Created |
2 | 2024-02-07 15:51:24 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |