IthaID: 3255


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --MEX3 HGVS Name: NC_000016.10:g.151479_182582del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 31.1 kb
Deletion involves: ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Rentería-López VM, Perea-Díaz FJ, Rizo-delaTorre LC, Sánchez-López JY, Ibarra-Cortés B, A Novel 31.1 kb α-Thalassemia Deletion (- -(MEX3)) Found in a Mexican Family., Hemoglobin , 2017
Created on 2017-09-06 19:13:58, Last reviewed on 2017-09-06 19:15:27 (Show full history)

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