IthaID: 2158


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Pakistani I HGVS Name: NC_000011.10:g.5194461_5700474delins[250inv]
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 506 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Pakistan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Rooks H, Clark B, Best S, Rushton P, Oakley M, Thein OS, Cuthbert AC, Britland A, Ruf A, Thein SL, A novel 506kb deletion causing εγδβ thalassemia., Blood Cells Mol. Dis. , 49(3), 121-7, 2012
Created on 2013-09-28 19:31:19, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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