IthaID: 2567

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: BS duplication HGVS Name: NC_000016.10:g.(85585_100579)_ (360915_410354)dup

Also known as:

Comments: This duplication was found spanning a region of approximately 260 kb starting 75 kb 5′ of the α2-globin gene to 185 kb downstream. This duplication defect increases the number of the α-globin genes from 4 to 6 in this patient, explaining the intermediate β-thalassemia 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
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 260 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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 11:15:38, Last reviewed on 2021-12-01 08:34:41 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.