IthaID: 3274



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --CBR HGVS Name: NC_000016.10:g.(?_53322)_(177893_179815)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion removes the sub-telomeric region of the short arm of chromosome 16 and extends to a region of 1.8 kb downstream of the HBA1 gene. The entire α-globin gene culster is removed, including the SNRNP25, RHBDF1, MPG and NPRL3 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: 125 kb
Deletion involves: HS40, ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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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 PubMed
Created on 2017-11-08 20:27:01, Last reviewed on 2017-11-08 20:32:36 (Show full history)

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