IthaID: 1520



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: German (Aγδβ)0 HGVS Name: NG_000007.3:g.(45922_46319)_(98640_99640)del
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 45922
Size: 52 kb
Deletion involves: , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: German
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Anagnou NP, Papayannopoulou T, Nienhuis AW, Stamatoyannopoulos G, Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism., Nucleic acids research, 16(13), 6057-66, 1988 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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