IthaID: 2550

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: African I duplication HGVS Name: NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677

Also known as:

Comments: The variant was present in conjunction with the a3.7 Kb deletion (ithaID: 300) and the HbS mutation (ithaID: 824). The phenotype associated with this genetic variant is likely to be silent (normal haematology) 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: 147.5 kb
Located at: βLCR, 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

Publications / Origin

  1. Shooter C, Senior McKenzie T, Oakley M, Jacques T, Clark B, Thein SL, First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype., Br. J. Haematol. , 2014
Created on 2015-01-12 12:56:31, Last reviewed on 2015-12-07 10:49:37 (Show full history)

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