IthaID: 3939


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: ~274 kb dup HGVS Name: N/A

Also known as:

Comments: The duplication includes the entire α-globin locus. Breakpoints cannot determine due to large repetitive sequences.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: HS40, ζ, α2, α1, NPRL3, HBM, AXIN1

Other details

Type of Mutation: Duplication
Ethnic Origin: Greek Cypriot
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL, Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis., Br J Haematol, 180(1), 160-164, 2018
Created on 2022-06-16 15:40:30, Last reviewed on 2022-06-16 15:49:36 (Show full history)

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