IthaID: 3142

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α6.3 HGVS Name: NG_000006.1:g.31022_37366del6344
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans about 6.3 kb on the α-globin gene cluster and involves deletion of the HBA2 gene, causing deficient α-globin production. The breakpoints were at 2,754 bp upstream of the α1-globin gene translation initiation codon and 2,903 bp downstream of the α1-globin gene translation termination codon.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 6.344 kb
Deletion involves: α2

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wang XY, Lin MX, Lin M, A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α(+)-Thalassemia in two Chinese Patients., Hemoglobin , 40(5), 365-368, 2016 PubMed
Created on 2017-01-17 11:28:36, Last reviewed on 2017-01-17 11:33:25 (Show full history)

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