IthaID: 2551


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Austrian I HGVS Name: N/A
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: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 339.255 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Zebisch A, Schulz E, Grosso M, Lombardo B, Acierno G, Sill H, Iolascon A, Identification of a novel variant of epsilon-gamma-delta-beta° thalassemia highlights limitations of next generation sequencing., Am. J. Hematol. , 2014
Created on 2015-01-12 13:09:53, Last reviewed on (Show full history)

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