IthaID: 4014

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
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


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 159.382 kb
Located at: ζ, α2, α1, NPRL3, HBM

Other details

Type of Mutation: Duplication
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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
Created on 2023-02-07 10:28:43, Last reviewed on 2024-02-07 15:51:24 (Show full history)

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