IthaID: 2548



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Inv-Del English V HGVS Name: NC_000011.10:g.5215690_5274684invdel5215690_5215772del5274684_5397195
Hb Name: N/A Protein Info: N/A

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.

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Combination
Ethnic Origin: English
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing, Gap-PCR, MLPA

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 (Show full history)

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