IthaID: 2161



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: French (εγδβ)0 insertion/deletion HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: 11,155 del + 197 ins

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 11.155 kb
Located at: βLCR

Phenotype

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

Other details

Type of Mutation: Insertion & Deletion
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Joly P, Lacan P, Garcia C, Meley R, Pondarré C, Francina A, A novel deletion/insertion caused by a replication error in the β-globin gene locus control region., Hemoglobin , 35(4), 316-22, 2011 PubMed
Created on 2013-09-30 10:24:41, Last reviewed on 2015-12-07 12:26:57 (Show full history)

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