IthaID: 3072

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: 125 bp deletion HGVS Name: NG_000006.1: g.37040_37164del

Also known as:

Comments: The deleted 125 bp are part of the α1 gene promoter region. It is an intergenic α2-α1 non-coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact. The patient presented with normal haematological indices.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37040
Size: 125 bp
Deletion involves: α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Kabyles, Northern Algeria
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Singh AR, Lacan P, Cadet E, Bignet P, Dumesnil C, Vannier JP, Joly P, Rochette J, A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population., Hemoglobin , 40(2), 108-12, 2016
Created on 2016-09-06 18:24:32, Last reviewed on 2016-09-07 10:32:30 (Show full history)

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