IthaID: 3869

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: >29.5 Kb duplication HGVS Name: NG_000007.3:g.(27675_41485)_(71150_72080)dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in compound heterozygosity with HBB:c.93-21G>A [IthaID:113] in two regular transfusion dependent siblings. MLPA analysis shown that the >29.5 Kb duplication includes HBD, HBBP1, HBG1, HBG2 and part of HBB.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 41485
Size: 29.5 kb
Located at: , , δ, β, pseudo β

Other details

Type of Mutation: Duplication
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Traeger Synodinos, Jan2021-10-01First report.
2Vrettou, Christina2021-10-01First report.
Created on 2021-10-05 11:18:47, Last reviewed on 2022-02-25 17:01:17 (Show full history)

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