IthaID: 1550



Names and Sequences

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

Comments: The deletion covers approximately 160 kb. The 5' breakpoint is located between positions 5408181 and 5387616, and the 3' breakpoint is located between positions 5253777 and 5247714 (UCSC Genome Browser, May 2004).

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 160 kb
Deletion involves: βLCR

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2018-01-15 17:33:09 (Show full history)

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