IthaID: 3267

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 23 GAG>TAG HGVS Name: HBA1:c.70G>T
Hb Name: N/A Protein Info: N/A

Protein sequence:

Also known as:

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37649
Size: 1 bp
Located at: α1
Specific Location: Exon 1


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Cardiero G, Scarano C, Musollino G, Di Noce F, Prezioso R, Dembech S, La Porta G, Bisconte MG, Colella R, Lacerra G, Role of NMD and NAS in the mRNA pattern of two new α-thalassemia mutants., Int. J. Biochem. Cell Biol. , 2017 PubMed
Created on 2017-09-28 18:52:36, Last reviewed on 2017-09-28 19:00:20 (Show full history)

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