IthaID: 3273


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --VS HGVS Name: NC_000016.10:g.(100364_105222)_(376261_986851)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans at least 271 kb on the α-globin gene cluster. The 5' breakpoint is located within a ~4.8 kb region in the NPRL3 gene, upstream of the distal regulatory elements, and the 3′ breakpoint is located within a ~610 kb region between the TMEM8A and SOX8 genes.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 271 kb
Deletion involves: HS40, ζ, α2, α1, HBM, AXIN1

Other details

Type of Mutation: Deletion
Ethnic Origin: Portuguese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017
Created on 2017-11-08 20:14:54, Last reviewed on 2017-11-08 20:19:10 (Show full history)

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