IthaID: 3971


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Tunisian (δβ)0 HGVS Name: NG_000007.3:g.58253_72837del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in homozygosity in a 7-year-old female.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 58253
Size: 14.585 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Tunisian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Miniar, Kalai2022-09-07First report.
2Moumni, Imen2022-09-07First report.
3Menif, Samia2022-09-07First report.
Created on 2022-09-08 09:46:38, Last reviewed on (Show full history)

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