IthaID: 3265

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: α-globin cluster triplication HGVS Name: NC_000016.10:g.(53322_113530)_(181203_206337)dup

Also known as:

Comments: Triplication of the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. Found in combination with heterozygous β-thalassaemia, resulting in a clinical presentation of thalassaemia intermedia. Identified by whole exome sequencing.

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: N/A
Located at: HS40, ζ, α2, α1, HBM

Other details

Type of Mutation: Duplication
Ethnic Origin: Eastern-European & Ashkenazi Jew
Molecular mechanism: N/A
Inheritance: N/A
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H, Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia., Cold Spring Harb Mol Case Stud , 2017 PubMed
Created on 2017-09-27 17:50:12, Last reviewed on 2021-12-01 08:38:27 (Show full history)

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