IthaID: 2570

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: Sardinian duplication HGVS Name: N/A

Also known as:

Comments: The duplication, spanning at least 170 kb, includes the α-globin genes and the regulatory elements MCS-R1, MCS-R2(HS40), MCS-R3 and MCS-R4.

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: 170 kb
Located at: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R, Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia., Haematologica , 94(10), 1445-8, 2009 PubMed
Created on 2015-12-08 10:58:46, Last reviewed on 2021-12-01 08:37:13 (Show full history)

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