IthaID: 3405

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC) HGVS Name: HBA2:c.142_161del
Hb Name: N/A Protein Info: α2 47 - 53 (-GACCTGAGCCACGGCTCTGC); modified C-terminal sequence

Context nucleotide sequence:

Also known as:

Comments: The 20 nt deletion creates a frameshift and a premature termination codon and would probably undergo nonsense-mediated decay, causing a thalassemic phenotype.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34034
Size: 20 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Norwegian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2019-04-12 09:45:47, Last reviewed on 2022-07-12 12:01:24 (Show full history)

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