IthaID: 1547


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Dutch II HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion length is estimated to be larger than 400 kb. The 5' breakpoint is located between positions 5408181 and 5387616, while the 3' breakpoint region is undefined (UCSC Genome Browser, May 2004).

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: 400 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β, OR51V1, OR51B5, OR51M1

Other details

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

Publications / Origin

  1. Abels J, Michiels JJ, Giordano PC, Bernini LF, Baysal E, Smetanina NS, Kazanetz EG, Leonova JY, Huisman TH, A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient., Acta haematologica, 96(2), 108-9, 1996
  2. Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005
Created on 2010-06-16 16:13:17, Last reviewed on 2018-01-15 17:26:20 (Show full history)

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