IthaID: 2548

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Inv-Del English V HGVS Name: NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This structural variant involved a 59.0 kb inversion encompassing HBG2 exon 3, HBG1, HBD, HBB, and OR51V1, juxtaposed by a deletion of 122.6 kb including 82 bp of the inverted sequence, HBG2 exon 1 and 2, HBE, and the β-locus control region.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 122.6 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Shooter C, Rooks H, Thein SL, Clark B, Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to-the-Base Characterization., Hum. Mutat. , 36(1), 142-50, 2015 PubMed
Created on 2015-01-12 12:05:27, Last reviewed on 2021-09-29 09:56:20 (Show full history)

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