IthaID: 284

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 468 bp deletion HGVS Name: NG_000007.3:g.70070_70537del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 468 bp deletion in the β-globin gene promoter, leaving intact the β-globin structural gene from position -7 upstream from the Cap site. Reported in literature as NG_000007.3:g.70068_70535del, which does not follow 3’rule of the HGVS Sequence Variant Nomeclature recommendations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70070
Size: 468 bp
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kueviakoe I, Gerard N, Krishnamoorthy R, Pereira S, Elion J, Ducrocq R, A new high A2-beta-thalassemia due to a 468 bp deletion (-475 to -8) in the beta-globin gene promoter of the intact beta-globin structural gene., Hemoglobin, 28(1), 69-72, 2004 PubMed
  2. Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-04-30 12:06:09 (Show full history)

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