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

HbVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	N/A
Size:	122.6 kb
Deletion involves:	βLCR, ε, Aγ, Gγ, 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

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)

A/A	Date	Curator(s)	Comments
1	2015-01-12 12:05:27	The IthaGenes Curation Team	Created
2	2021-09-29 09:56:20	The IthaGenes Curation Team	Reviewed. HGVS name corrected.

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