IthaID: 1540



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Hispanic (εγδβ)0 HGVS Name: NG_000007.3:g.9430_49213del
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 9430
Size: 39.784 kb
Deletion involves: βLCR, ε, ,

Other details

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

Sequence Viewer

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Publications / Origin

  1. Driscoll MC, Dobkin CS, Alter BP, Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites., Proceedings of the National Academy of Sciences of the United States of America, 86(19), 7470-4, 1989 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-17 10:18:23 (Show full history)

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