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

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.

External Links


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


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.