IthaID: 1530



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Italian (Aγδβ)0 HGVS Name: NC_000011.10:g.5194458_5249516del
Hb Name: N/A Protein Info: deletion of 55059 nts from the Aγ gene to β gene

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48100
Size: 55.059 kb
Deletion involves: , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Lacerra G, Prezioso R, Musollino G, Piluso G, Mastrullo L, De Angioletti M, Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia., Eur. J. Haematol. , 90(3), 214-9, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-19 13:29:11 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.