IthaID: 2430



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 203 bp deletion HGVS Name: NG_000006.1:g.34305_34507del203
Hb Name: N/A Protein Info: α2 nts 567-769 deleted

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34305
Size: 203 bp
Deletion involves: α2

Other details

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

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. Lambert A, Wong AY, Kominami Y, Smith VC, Reddy S, Wadsworth LD, Au NH, MacGillivray RT, Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait., Hemoglobin , 37(2), 192-6, 2013 PubMed
Created on 2014-05-29 16:59:45, Last reviewed on (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.