IthaID: 3938



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: 120.5 kb dup HGVS Name: NC_000016.10:g.98546_219042del

Also known as:

Comments: The duplication includes the entire α-globin locus.

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: 120.498 kb
Located at: HS40, ζ, α2, α1, NPRL3, HBM

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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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 PubMed
Created on 2022-06-16 15:36:19, Last reviewed on 2022-06-16 15:53:00 (Show full history)

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