IthaID: 2430



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 203 bp deletion HGVS Name: NG_000006.1:g.34305_34507del203
Hb Name: N/A Protein Info: α2 nts 567-769 deleted

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34305
Size: 203 bp
Deletion involves: α2

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Libanese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Lambert A, Wong AY, Kominami Y, Smith VC, Reddy S, Wadsworth LD, Au NH, MacGillivray RT, Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait., Hemoglobin , 37(2), 192-6, 2013 PubMed
Created on 2014-05-29 16:59:45, Last reviewed on (Show full history)

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