IthaID: 3020



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --DANE HGVS Name: NG_000006.1: g.8800_40007del31208
Hb Name: N/A Protein Info: N/A

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 8800
Size: 31.208 kb
Deletion involves: ζ, α2, α1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Palestinian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Brieghel C, Birgens H, Frederiksen H, Hertz JM, Steenhof M, Petersen J, Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia., Hemoglobin , 39(5), 346-9, 2015 PubMed
Created on 2016-08-25 16:06:41, Last reviewed on 2016-08-26 10:50:55 (Show full history)

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