IthaID: 2161


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: French (εγδβ)0 insertion/deletion HGVS Name: NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv]
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: 11,155 del + 197 ins

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: N/A
Size: 11.155 kb
Located at: βLCR

Other details

Type of Mutation: Insertion & Deletion
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
Created on 2013-09-30 10:24:41, Last reviewed on 2015-12-07 12:26:57 (Show full history)

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