IthaID: 3112

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: African II duplication HGVS Name: NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938

Also known as:

Comments: The duplication includes an intact β-globin gene cluster with the sickle cell mutation and a partial wild-type β-globin gene cluster (lacking both the 5'βLCR and 3'HS1) in the same locus, resulting in three copies of β-globin gene in the genome. The duplication event is probably the result of non-homologous recombination between L1PB1 and intron 2 of HBE1. The associated phenotype is likely to be silent when not present with other haemoglobinopathy mutations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 613.1 kb
Located at: ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Reading NS, Shooter C, Song J, Miller R, Agarwal A, Lanikova L, Clark B, Thein SL, Divoky V, Prchal JT, Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression., Hum. Mutat. , 2016 PubMed
Created on 2016-09-29 09:57:11, Last reviewed on 2022-02-08 18:00:13 (Show full history)

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