IthaID: 2418

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Swiss (εγδβ)0 HGVS Name: NC_000011.9:g.(4023964_4024014)_(6928943_6928993)del2904980
Hb Name: N/A Protein Info: deletion of 2904980 nts from the βLCR gene to β gene

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 2904.98 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Swiss
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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Publications / Origin

  1. Von Kanel T, Röthlisberger B, Schanz U, Dutly F, Huber AR, Saller E, A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment., Am. J. Hematol. , 88(2), 158-9, 2013 PubMed
Created on 2014-05-29 12:40:19, Last reviewed on 2014-05-29 12:52:33 (Show full history)

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