IthaID: 1551


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Dutch VI HGVS Name: NC_000011.10:g.(?_5227218)_(5373082_5382848)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion length is reported to be 160 kb or 175 kb. The 5' breakpoint is located between positions 5360654 and 5350888, whereas the 3' breakpoint is mapped to position 5204970 (UCSC Genome Browser, May 2004).

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: 175 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

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
Created on 2010-06-16 16:13:17, Last reviewed on 2018-01-15 18:09:50 (Show full history)

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