IthaID: 2568

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: FD duplication HGVS Name: NC_000016.10:g.55826_(185840_187594)dup

Also known as:

Comments: A complete duplication of the α-globin gene cluster on the other allele spanning a 175 kb region from the telomere to the 3′HVR downstream of the α-globin genes. This duplication defect in addition to a anti-3.7 triplication, brings the expression of the α-globin genes from the normal 4 to a total of 7, explaining the severe-intermediate status of this patient.

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: 175 kb
Located at: HS40, ζ, α2, α1

Other details

Type of Mutation: Duplication
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008 PubMed
Created on 2015-12-07 11:19:17, Last reviewed on 2021-12-01 08:36:22 (Show full history)

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