IthaID: 2550



Names and Sequences

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

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.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 147.5 kb
Located at: βLCR, ε, , , δ, β, pseudo β

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing, Gap-PCR, MLPA

Sequence Viewer

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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 PubMed
Created on 2015-01-12 12:56:31, Last reviewed on 2015-12-07 10:49:37 (Show full history)

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