IthaID: 3307



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: N/A HGVS Name: NG_000007.3:g.[63191_70603dup;63291_70703del]
Hb Name: Hb Lepore Rochester-MN Protein Info: β-δ hybrid (β through 22; δ from 9) and δ-β hybrid (δ through 22; β from 50)

Also known as:

Comments: The protein structure is similar to Hb Lepore-Hollandia; however, whereas the latter is regulated by the promoter of the δ-globin gene, this novel variant is regulated by the β-globin gene promoter, thereby resulting in increased protein expression.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:δβ fusion
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63191
Size: 7.412 kb
Fusion involves: δ, β

Other details

Type of Mutation: Fusion
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence 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

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2018-02-06 17:32:51, Last reviewed on 2018-02-06 17:34:57 (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.