IthaID: 3076

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: αααα391 HGVS Name: NC_000016.10:g.101440_492029dup

Also known as:

Comments: The duplication spans about 391 kb and involves the entire α-globin gene cluster, the regulatory region (HS-40) of the α-globin gene and part of the NPRL3 gene, with a breakpoint between 151,483 and 542,029 (GRCh37.p13). Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with a haematologically silent phenotype. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.

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
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 390.589 kb
Located at: HS40, ζ, α2, α1, NPRL3

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. Jiang H, Liu S, Zhang YL, Wan JH, Li R, Li DZ, Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome., Hemoglobin , 39(2), 102-6, 2015 PubMed
Created on 2016-09-08 19:03:59, Last reviewed on 2022-07-13 10:09:51 (Show full history)

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