IthaID: 1531



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Canadian (Aγδβ)0 HGVS Name: NC_000011.10:g.5196589_5251715delinsTA
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 55.1 kb
Deletion involves: , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Canadian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Voruganti I, Eng B, Waye JS, Molecular characterization of a novel 55.1 kb (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion in two Canadian families., Hemoglobin, 33(6), 422-7, 2009 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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