IthaID: 3307



Names and Sequences

Functionality: Globin gene causative mutation
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)

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.

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Fusion
Ethnic Origin: N/A
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Unknown

Sequence Viewer

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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To the best of our knowledge, this is unpublished data.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)

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