IthaID: 1523



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Malaysian-2 (Aγδβ)0 HGVS Name: NG_000007.3:g.(47376_47553)_(89149_90149)del
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47376
Size: 42 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: Malay
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. George E, Faridah K, Trent RJ, Padanilam BJ, Huang HJ, Huisman TH, Homozygosity for a new type of G gamma (A gamma delta beta)zero-thalassemia in a Malaysian male., Hemoglobin, 10(4), 353-63, 1986 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-06-04 10:35:49 (Show full history)

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