IthaID: 1398



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.63564_70978del
Hb Name: Hb Lepore-Baltimore Protein Info: δ-β hybrid (δ through 50; β from 86)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63564
Size: 7.398 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: Spanish, African, Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Ostertag W, Smith EW, Hemoglobin-Lepore-Baltimore, a third type of a delta, beta crossover (delta 50, beta 86)., European journal of biochemistry / FEBS, 10(2), 371-6, 1969 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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