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
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2016-09-29 09:57:11,
Last reviewed on 2022-02-08 18:00:13 (Show full history)
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